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
CCDC181	57821	broad.mit.edu	37	1	169390813	169390813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:169390813C>T	ENST00000545005.1	-	4	1363	c.856G>A	c.(856-858)Gag>Aag	p.E286K	CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E286K|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		GCCAGCGGCTCTCCTGTTGAT	0.473000													53	142					0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	144					0	0	0.001168	0	0
ZIM3	114026	broad.mit.edu	37	19	57646307	57646307	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:57646307C>T	ENST00000269834.1	-	5	1783	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTTCTGGTGCCTAA	0.428000													49	70					0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39446956	39446956	+	Silent	SNP	G	G	T	rs147947821		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:39446956G>T	ENST00000280481.7	+	17	8277	c.8061G>T	c.(8059-8061)ggG>ggT	p.G2687G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCCGTGGGGGTAGGAGGCT	0.488000													40	64					9.8876e-21	1.50463e-20	0.004878	1	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:82582174G>T	ENST00000423517.2	-	5	8432	c.8095C>A	c.(8095-8097)Cct>Act	p.P2699T	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000													18	47					3.32936e-07	4.19164e-07	0.006122	1	0
MAST4	375449	broad.mit.edu	37	5	66429471	66429471	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:66429471A>G	ENST00000404260.3	+	17	2540	c.2232A>G	c.(2230-2232)aaA>aaG	p.K744K	MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000261569.7_Silent_p.K547K|MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000403625.2_Silent_p.K741K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	744	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCTGGATAAACAGGTAAGCT	0.408000													21	37					0	0	0.001523	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418000													6	66					0	0	0.001984	0	0
MBTPS2	51360	broad.mit.edu	37	X	21869684	21869684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:21869684A>T	ENST00000365779.2	+	4	577	c.496A>T	c.(496-498)Att>Ttt	p.I166F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	166					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGCAGTTCTCATTAGTGGTGT	0.373000													5	78					0	0	0.001168	0	0
PCDH15	65217	broad.mit.edu	37	10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:56106133C>A	ENST00000373965.2	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D196Y(2)|p.D201Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGATCATCTGGATTATAC	0.308000										HNSCC(58;0.16)			26	59					1.66031e-10	2.20116e-10	0.003954	1	0
ZNF521	25925	broad.mit.edu	37	18	22804737	22804737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:22804737C>A	ENST00000361524.3	-	4	3293	c.3145G>T	c.(3145-3147)Ggg>Tgg	p.G1049W	ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGCAGACCCATTCCCTGTC	0.522000			T	PAX5	ALL								19	20					8.00594e-06	9.83186e-06	0.007413	1	0
SAFB2	9667	broad.mit.edu	37	19	5598876	5598876	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:5598876C>G	ENST00000252542.4	-	13	1974	c.1710G>C	c.(1708-1710)cgG>cgC	p.R570R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCACGACCGTCCGCTCCATTC	0.507000													26	48					0	0	0.008361	0	0
ABT1	29777	broad.mit.edu	37	6	26597372	26597372	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:26597372G>T	ENST00000274849.1	+	1	193	c.162G>T	c.(160-162)ccG>ccT	p.P54P		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	54	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCCATATCCCGCCGCGCTTCC	0.612000													16	28					2.32078e-09	3.03088e-09	0.003163	1	0
DUSP6	1848	broad.mit.edu	37	12	89745444	89745444	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:89745444C>T	ENST00000279488.7	-	1	1604	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	125	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						CGGCAGCCCTCGTCCTTGAGC	0.687000													6	2					0	0	0.001168	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29888756	29888756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:29888756A>T	ENST00000308713.5	-	11	2272	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	582	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCGTCGAACAGCGTCAGCAT	0.692000													10	26					0	0	0.000978	0	0
RABEP2	79874	broad.mit.edu	37	16	28917494	28917494	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:28917494G>A	ENST00000358201.4	-	9	1857	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	423					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTTGCCGCGTGCAGCACAGCA	0.716000													7	10					0	0	0.004482	0	0
METTL3	56339	broad.mit.edu	37	14	21969087	21969087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:21969087C>T	ENST00000298717.4	-	5	1235	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	362					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GCACTGGAATCACCTCCGACA	0.507000													12	8					0	0	0.001855	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975532	31975532	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:31975532C>T	ENST00000342991.6	+	0	1455					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GGACCGTGCACGGCTGCCCTT	0.657000													19	19					0	0	0.007413	0	0
MMP13	4322	broad.mit.edu	37	11	102818711	102818711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:102818711C>G	ENST00000260302.3	-	8	1148	c.1120G>C	c.(1120-1122)Ggt>Cgt	p.G374R	MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	374	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTGGAAGACCCAGTTCAGAT	0.403000													21	13					0	0	0.008871	0	0
DOCK9	23348	broad.mit.edu	37	13	99452600	99452600	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:99452600G>A	ENST00000376460.1	-	53	5980	c.5900C>T	c.(5899-5901)tCg>tTg	p.S1967L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1968	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCTCGGCCGAGGAGCACAG	0.612000													11	21					0	0	0.000978	0	0
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:7577557A>T	ENST00000420246.2	-	7	856	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		CCGCCCATGCAGGAACTGTTA	0.577000		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)			67	22					0	0	0.003610	0	0
DENND4C	55667	broad.mit.edu	37	9	19316463	19316463	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:19316463G>T	ENST00000380432.2	+	7	861	c.828G>T	c.(826-828)ccG>ccT	p.P276P	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Silent_p.P512P|DENND4C_ENST00000602925.1_Silent_p.P512P	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	276						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCAAAAAGCCGTGCAAAAATC	0.328000													11	2					7.03913e-09	9.15871e-09	0.001368	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090459	91090459	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:91090459G>T	ENST00000395337.2	+	4	589		c.e4-1		PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR|PCDH11X_ENST00000373097.1_5'UTR	NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTTTGGTCAGTGTTGTGCGG	0.403000													38	11					1.96642e-18	2.92871e-18	0.006999	1	0
COL6A2	1292	broad.mit.edu	37	21	47552400	47552400	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:47552400C>A	ENST00000300527.4	+	28	3098	c.2994C>A	c.(2992-2994)caC>caA	p.H998Q		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	998	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGTGTTCCACGAGAAGGACT	0.677000													7	18					8.12818e-05	9.878e-05	0.001984	1	0
OR6K2	81448	broad.mit.edu	37	1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	rs141159720	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403000													10	29					0	0	0.006214	0	0
DUS3L	56931	broad.mit.edu	37	19	5786796	5786796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:5786796C>T	ENST00000309061.7	-	9	1546	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	484					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCACGCACTCCTCGATGTAC	0.667000													19	33					0	0	0.002299	0	0
HAO1	54363	broad.mit.edu	37	20	7895010	7895010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr20:7895010C>T	ENST00000378789.3	-	3	397	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	116	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCACTTCTTCAATTGAGGAG	0.532000													14	36					0	0	0.001855	0	0
P2RY2	5029	broad.mit.edu	37	11	72946311	72946311	+	Missense_Mutation	SNP	C	C	G	rs145119561	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:72946311C>G	ENST00000311131.2	+	3	1574	c.1107C>G	c.(1105-1107)agC>agG	p.S369R	P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGCTGGTAGCGAGAACACTA	0.552000													47	35					0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108778707	108778707	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:108778707T>G	ENST00000232603.5	-	12	1059	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	326					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGCTCTCTGTAATACATC	0.358000													7	51					0	0	0.003080	0	0
NSMF	26012	broad.mit.edu	37	9	140346851	140346851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:140346851C>G	ENST00000371475.3	-	12	1433	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	NSMF_ENST00000437259.1_Missense_Mutation_p.G378A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000484316.1_5'UTR	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		GATCTTGGCTCCCTTGTGGTA	0.617000													59	121					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81738464	81738464	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:81738464A>T	ENST00000550584.2	-	18	2536	c.2241T>A	c.(2239-2241)gaT>gaA	p.D747E	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D314E|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D729E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D747E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D729E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D594E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D648E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D673E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	673										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTTCCTCAGATCACTTGGCT	0.279000													3	0					0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134072226	134072226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:134072226G>C	ENST00000264360.4	+	1	1757	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	311	Cadherin 3.				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)		TGGCAGACTGGAGGTAAGCGG	0.632000													37	23					0	0	0.003271	0	0
ZHX2	22882	broad.mit.edu	37	8	123965602	123965602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:123965602T>C	ENST00000314393.4	+	3	2687	c.1852T>C	c.(1852-1854)Tcc>Ccc	p.S618P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	618						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACCAGCTCTCCGGTGCCCA	0.532000													25	52					0	0	0.003954	0	0
OR2T3	343173	broad.mit.edu	37	1	248637239	248637239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248637239C>G	ENST00000359594.2	+	1	613	c.588C>G	c.(586-588)gaC>gaG	p.D196E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCTGACGTCTCCCTCT	0.522000													107	273					0	0	0.003610	0	0
DAB2	1601	broad.mit.edu	37	5	39376143	39376143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:39376143C>G	ENST00000545653.1	-	12	2670	c.2140G>C	c.(2140-2142)Gag>Cag	p.E714Q	DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000320816.6_Missense_Mutation_p.E735Q	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	735	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAAGGGTTCTCAAATGCATTG	0.418000													19	36					0	0	0.008871	0	0
DDI2	84301	broad.mit.edu	37	1	15956910	15956910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:15956910C>T	ENST00000480945.1	+	3	530	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	120					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGTCCCACTCATCTCCTGGA	0.542000													33	15					0	0	0.002096	0	0
CD226	10666	broad.mit.edu	37	18	67614187	67614187	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:67614187G>A	ENST00000280200.4	-	3	433	c.165C>T	c.(163-165)acC>acT	p.T55T	CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	55	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCCTGCTGGGTCCCGATCT	0.463000													21	15					0	0	0.001882	0	0
TRRAP	8295	broad.mit.edu	37	7	98581764	98581764	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:98581764A>G	ENST00000359863.4	+	60	9292	c.9083A>G	c.(9082-9084)aAt>aGt	p.N3028S	TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3028	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGTTCAAATAACGCTATG	0.448000													43	62					0	0	0.006999	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716928	170716928	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:170716928G>T	ENST00000314251.3	-	9	1175	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	366					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAGAGAGAACGTCGCCCTGCC	0.398000													39	107					2.54651e-27	4.01476e-27	0.006999	1	0
MET	4233	broad.mit.edu	37	7	116339752	116339752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:116339752A>G	ENST00000397752.3	+	2	814	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	205	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATTCTTCTTATTTCCCAGAT	0.418000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				67	89					0	0	0.003610	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601217	138601217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:138601217G>A	ENST00000251691.4	+	14	2543	c.2377G>A	c.(2377-2379)Gtg>Atg	p.V793M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	793	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTACCATCAGGTGCTCGACAG	0.552000													28	29					0	0	0.006320	0	0
UNC13A	23025	broad.mit.edu	37	19	17728564	17728564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:17728564G>A	ENST00000428389.2	-	42	4768	c.4769C>T	c.(4768-4770)aCg>aTg	p.T1590M	UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607000													50	72					0	0	0.003610	0	0
OGDHL	55753	broad.mit.edu	37	10	50945898	50945898	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:50945898T>A	ENST00000374103.4	-	20	2609	c.2524A>T	c.(2524-2526)Atc>Ttc	p.I842F	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	842					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTGTGAAGATAATCAGCTGG	0.617000													33	50					0	0	0.002096	0	0
RFX5	5993	broad.mit.edu	37	1	151315026	151315026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:151315026G>C	ENST00000290524.4	-	11	1665	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*	RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	496						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAACCTTGAGGACTGGGC	0.577000													83	194					0	0	0.003610	0	0
COL19A1	1310	broad.mit.edu	37	6	70856592	70856592	+	Silent	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:70856592A>T	ENST00000322773.4	+	26	1914	c.1812A>T	c.(1810-1812)ccA>ccT	p.P604P	COL19A1_ENST00000393344.1_Silent_p.P226P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	604	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACGTGGGCCAAAGGTATACA	0.323000													5	11					0	0	0.001168	0	0
CDH17	1015	broad.mit.edu	37	8	95174380	95174380	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:95174380G>T	ENST00000027335.3	-	11	1417	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	431	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAAACAAAGGGTCTTGAAAT	0.313000													13	30					6.72482e-11	8.94939e-11	0.003163	1	0
SCN3A	6328	broad.mit.edu	37	2	165986510	165986510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:165986510G>T	ENST00000360093.3	-	17	3353	c.2862C>A	c.(2860-2862)gtC>gtA	p.V954V	SCN3A_ENST00000283254.7_Silent_p.V954V|SCN3A_ENST00000409101.3_Silent_p.V905V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	954						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTGGCCAGCGACCTCCATAC	0.468000													188	143					3.0798e-103	5.20739e-103	0.003610	1	0
DRP2	1821	broad.mit.edu	37	X	100494001	100494001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:100494001C>T	ENST00000395209.3	+	6	997	c.470C>T	c.(469-471)cCc>cTc	p.P157L	DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	157					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTCGGGGCCCCTACATCTAT	0.463000													58	16					0	0	0.003610	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856854	19856854	+	RNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:19856854C>G	ENST00000548109.1	+	0	72																											CTCATGTCATCTACAGCACTC	0.343000													7	40					0	0	0.004482	0	0
CLCNKB	1188	broad.mit.edu	37	1	16380200	16380200	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16380200A>G	ENST00000375679.4	+	16	1800	c.1689A>G	c.(1687-1689)ccA>ccG	p.P563P	CLCNKB_ENST00000375667.3_Silent_p.P394P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		AGGACATGCCACTGGAGGAGG	0.632000													15	15					0	0	0.008871	0	0
OR2T3	343173	broad.mit.edu	37	1	248637225	248637225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248637225C>T	ENST00000359594.2	+	1	599	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGAAGCTCTCCTGCTC	0.517000													192	155					0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110828798	110828798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:110828798C>T	ENST00000375820.4	-	36	3152	c.3031G>A	c.(3031-3033)Gga>Aga	p.G1011R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1011	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAACAGATCCTTTTGGTCCC	0.483000													23	44					0	0	0.006320	0	0
ST5	6764	broad.mit.edu	37	11	8737301	8737301	+	Missense_Mutation	SNP	C	C	T	rs144868309		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:8737301C>T	ENST00000534127.1	-	9	2079	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	ST5_ENST00000530991.1_Missense_Mutation_p.R37Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	565					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCGTGGCAGCCGGTGGCTCTT	0.617000													41	80					0	0	0.002852	0	0
ZNF226	7769	broad.mit.edu	37	19	44680226	44680226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44680226C>T	ENST00000590089.1	+	7	1178	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TGATCTTCATCAGCAGTTACA	0.423000													23	42					0	0	0.001882	0	0
LRP5	4041	broad.mit.edu	37	11	68154175	68154175	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:68154175G>A	ENST00000294304.7	+	6	1513	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	469	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCCCGTGATGGGGTAAG	0.672000													13	27					0	0	0.003163	0	0
RIMS2	9699	broad.mit.edu	37	8	105235910	105235910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:105235910G>T	ENST00000339750.2	+	1	31	c.31G>T	c.(31-33)Gct>Tct	p.A11S	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1247					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTGCCAGCGCTGCGGGGCG	0.687000										HNSCC(12;0.0054)			8	16					1.12685e-05	1.37901e-05	0.004482	1	0
DYRK1B	9149	broad.mit.edu	37	19	40321360	40321360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:40321360C>T	ENST00000593685.1	-	3	595	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	43					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGCGGGGCTGAGGTTGCA	0.642000													30	42					0	0	0.007291	0	0
RGS7	6000	broad.mit.edu	37	1	240964780	240964780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:240964780G>C	ENST00000366565.1	-	17	1769	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	463					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTCAAAAGATGTTCTGCG	0.333000													10	18					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155203145	155203145	+	Splice_Site	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:155203145C>T	ENST00000460012.1	-	22	3241	c.2884_splice	c.e22+1	p.A962_splice	PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1000					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423000													13	50					0	0	0.001368	0	0
FCAR	2204	broad.mit.edu	37	19	55396680	55396680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:55396680C>A	ENST00000355524.3	+	3	114	c.104C>A	c.(103-105)tCg>tAg	p.S35*	FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000353758.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	35					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.S35L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCTGCCAAATCGAGTCCTGTG	0.498000													22	34					3.62473e-10	4.78738e-10	0.001882	1	0
DOCK3	1795	broad.mit.edu	37	3	51400017	51400017	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:51400017G>A	ENST00000266037.9	+	49	5228	c.5205G>A	c.(5203-5205)tcG>tcA	p.S1735S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTCCTCGTCCCAGGCAA	0.557000													32	18					0	0	0.002096	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626706	43626706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:43626706T>A	ENST00000332857.6	-	4	2009	c.1981A>T	c.(1981-1983)Agg>Tgg	p.R661W		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CACAGGTCCCTCTCTAGCTGG	0.562000													71	13					0	0	0.003610	0	0
HRH4	59340	broad.mit.edu	37	18	22056718	22056718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:22056718A>T	ENST00000256906.4	+	3	465	c.365A>T	c.(364-366)tAt>tTt	p.Y122F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	122						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TAGGTGTCTTATAGAACTCAA	0.378000													7	42					0	0	0.001984	0	0
GIN1	54826	broad.mit.edu	37	5	102423676	102423676	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:102423676C>A	ENST00000399004.2	-	8	1589	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	499					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GAACTATGATCGTCTATCAAT	0.318000													33	53					3.80469e-20	5.76469e-20	0.001786	1	0
HTR2A	3356	broad.mit.edu	37	13	47409480	47409480	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:47409480G>A	ENST00000378688.4	-	3	1039	c.908C>T	c.(907-909)cCa>cTa	p.P303L	HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L|HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	303					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.P303Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTAGGACCCTGGCTCCCTATG	0.517000													21	29					0	0	0.002299	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658323	144658323	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:144658323C>A	ENST00000449291.2	-	8	1326	c.1032G>T	c.(1030-1032)gtG>gtT	p.V344V	NAPRT1_ENST00000426292.3_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Silent_p.V344V			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	344					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGCCAGGGCACCTGGAACC	0.667000													20	34					7.41877e-09	9.61693e-09	0.001882	1	0
PLEC	5339	broad.mit.edu	37	8	145016653	145016653	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:145016653G>T	ENST00000357649.2	-	1	39	c.31C>A	c.(31-33)Ccg>Acg	p.P11T	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000398774.2_Intron	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				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						ACCTCCCTCGGCGAGGCAAAG	0.756000													23	13					4.54149e-19	6.82197e-19	0.002299	1	0
ACY3	91703	broad.mit.edu	37	11	67410230	67410230	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:67410230G>T	ENST00000255082.3	-	8	1095	c.925C>A	c.(925-927)Ccc>Acc	p.P309T	ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GTCAGCGCGGGCATGGCAGGC	0.587000													45	98					4.78724e-31	7.72136e-31	0.003610	1	0
KDM6A	7403	broad.mit.edu	37	X	44938390	44938390	+	Splice_Site	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:44938390G>C	ENST00000377967.4	+	20	2979		c.e20-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATTCATGAAGACCTGGGACT	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								11	1					0	0	0.008291	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509618	171509618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:171509618G>T	ENST00000367742.3	+	16	3255	c.3013G>T	c.(3013-3015)Gaa>Taa	p.E1005*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1003							protein C-terminus binding										TAACAGAAGGGAAGAAGTTAA	0.413000													17	16					1.02788e-11	1.38369e-11	0.004990	1	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	20					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13719184	13719184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:13719184G>T	ENST00000265104.4	-	72	12410	c.12306C>A	c.(12304-12306)tgC>tgA	p.C4102*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4102	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCCCAGATGGCAGTTCTGCA	0.418000									Kartagener syndrome				22	29					1.10513e-12	1.51685e-12	0.002299	1	0
PEAK1	79834	broad.mit.edu	37	15	77474169	77474169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:77474169C>T	ENST00000560626.2	-	4	575	c.100G>A	c.(100-102)Gag>Aag	p.E34K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	34					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGTGCCTTCTCAGGGTCTGGG	0.468000													8	182					0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139151251	139151251	+	Silent	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:139151251G>C	ENST00000395297.1	-	18	4049	c.3879C>G	c.(3877-3879)ctC>ctG	p.L1293L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1293										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)			TTAGTTGGTAGAGGAAACATT	0.448000										HNSCC(54;0.14)			12	127					0	0	0.001368	0	0
KIAA1217	56243	broad.mit.edu	37	10	24727394	24727394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:24727394A>G	ENST00000376454.3	+	5	862	c.832A>G	c.(832-834)Aat>Gat	p.N278D	KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	278					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAACTATGAATGGAGACAT	0.403000													43	56					0	0	0.008740	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221511	10221511	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:10221511C>T	ENST00000428358.1	+	11	1342	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	PPAN_ENST00000253107.7_Silent_p.F390F|PPAN_ENST00000556468.1_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000393793.1_Silent_p.F337F	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		390					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCGAGTATTTCTGCCAGGCGG	0.607000													67	140					0	0	0.003610	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													9	35					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237865319	237865319	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:237865319T>A	ENST00000366574.2	+	66	9726	c.9409T>A	c.(9409-9411)Tta>Ata	p.L3137I	RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I|RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGACTAGCTTATATGCTTT	0.328000													32	16					0	0	0.004289	0	0
CDK8	1024	broad.mit.edu	37	13	26911771	26911771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:26911771G>C	ENST00000381527.3	+	2	699	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	66	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGCATGTAGAGAAATAGCAGT	0.294000													30	51					0	0	0.003755	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453000													56	102					6.4308e-24	9.95921e-24	0.003610	1	0
HNF1A	6927	broad.mit.edu	37	12	121438953	121438953	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:121438953C>A	ENST00000257555.6	+	10	2080	c.1854C>A	c.(1852-1854)atC>atA	p.I618I	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000544413.1_Silent_p.I625I|HNF1A_ENST00000541395.1_Silent_p.I649I			P20823	HNF1A_HUMAN	HNF1 homeobox A	618			I -> M (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGCGTCATCGAGACCTTCA	0.617000									Hepatic Adenoma, Familial Clustering of				10	5					1.58986e-06	1.98026e-06	0.008291	1	0
APC	324	broad.mit.edu	37	5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	rs149154604		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	31					0	0	0.008871	0	0
ZNF233	353355	broad.mit.edu	37	19	44778658	44778658	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44778658G>T	ENST00000391958.2	+	5	1972	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGATCCACACGGGAGAGAAAC	0.438000													38	56					1.06647e-15	1.53607e-15	0.003755	1	0
STK31	56164	broad.mit.edu	37	7	23871841	23871841	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:23871841C>T	ENST00000354639.3	+	24	3311	c.2847C>T	c.(2845-2847)ttC>ttT	p.F949F	STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000428484.1_Silent_p.F949F|STK31_ENST00000355870.3_Silent_p.F972F|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	972	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353000													68	60					0	0	0.003610	0	0
BNC1	646	broad.mit.edu	37	15	83926817	83926817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:83926817C>T	ENST00000345382.2	-	5	2447	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E781K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	788					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAATGATCTTCACTACTCTCC	0.458000													36	63					0	0	0.005524	0	0
TECRL	253017	broad.mit.edu	37	4	65147243	65147243	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:65147243G>A	ENST00000381210.3	-	10	977	c.867C>T	c.(865-867)aaC>aaT	p.N289N	TECRL_ENST00000507440.1_Silent_p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	289					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGTGAAGGGGTTATAATTTG	0.328000													19	7					0	0	0.006122	0	0
LEPR	3953	broad.mit.edu	37	1	66081724	66081724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:66081724C>T	ENST00000349533.6	+	15	2214	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	677	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCAGTGTTCAGAGATATGT	0.393000													15	15					0	0	0.004007	0	0
MUC3A	4584	broad.mit.edu	37	7	100551864	100551864	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:100551864C>G	ENST00000319509.7	+	1	615	c.615C>G	c.(613-615)ctC>ctG	p.L205L						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAACTTCACTCACATCTACAA	0.438000													56	515					0	0	0.003610	0	0
MTMR11	10903	broad.mit.edu	37	1	149905389	149905389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:149905389C>T	ENST00000439741.2	-	10	1145	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	299	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGACAACATCTGAATGCCCA	0.547000													31	105					0	0	0.002445	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621229	13621229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:13621229C>T	ENST00000361205.4	+	5	963	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R99C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.R99C(2)|p.R62C(1)									CTTCATCAACCGCCCGAACCA	0.637000													102	29					0	0	0.003610	0	0
TRGV2	6974	broad.mit.edu	37	7	38402465	38402465	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:38402465C>A	ENST00000426402.2	-	0	543																											AATCACTGTGCCCGTCCCAGG	0.473000													31	27					6.00712e-18	8.87128e-18	0.002445	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94791279	94791279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:94791279G>A	ENST00000289495.5	+	4	1966	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	584	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGCAACGTCAGGTAAAT	0.363000										HNSCC(28;0.073)			5	3					0	0	0.001168	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627262	21627262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:21627262C>G	ENST00000425654.2	+	19	2609	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C	CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	740					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGTCTCAGTCTTCTCATGAG	0.517000													34	10					0	0	0.003271	0	0
PRSS37	136242	broad.mit.edu	37	7	141536336	141536336	+	Splice_Site	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:141536336C>A	ENST00000350549.3	-	5	939		c.e5-1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CGGCCACCTCCTACCGGAGAT	0.547000													12	4					6.40141e-05	7.8066e-05	0.000978	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													5	88					0	0	0.000602	0	0
ZNF776	284309	broad.mit.edu	37	19	58265188	58265188	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:58265188C>A	ENST00000317178.5	+	3	953	c.690C>A	c.(688-690)ctC>ctA	p.L230L		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGAGACTTCTCCCTAGAGAAG	0.418000													38	69					1.04594e-18	1.56444e-18	0.006230	1	0
SDCCAG3	10807	broad.mit.edu	37	9	139301763	139301763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:139301763G>A	ENST00000298537.7	-	4	795	c.584C>T	c.(583-585)cCg>cTg	p.P195L	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	218						cytoplasm		p.P218L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGCTCCGACGGGGTGGAGAA	0.657000													11	8					0	0	0.000978	0	0
MGAM	8972	broad.mit.edu	37	7	141755884	141755884	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:141755884A>C	ENST00000475668.2	+	29	3622	c.3568A>C	c.(3568-3570)Agc>Cgc	p.S1190R	MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1190	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCTGAACAGCAATGCCAT	0.512000													8	3					0	0	0.003080	0	0
LRRK1	79705	broad.mit.edu	37	15	101567909	101567909	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:101567909G>T	ENST00000284395.5	+	20	2984	c.2584G>T	c.(2584-2586)Gac>Tac	p.D862Y	LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	865					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCCGGGACGACGACGTGCA	0.662000													12	7					7.93312e-07	9.9164e-07	0.002450	1	0
ALG5	29880	broad.mit.edu	37	13	37524134	37524134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:37524134C>T	ENST00000239891.3	-	10	986	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	ALG5_ENST00000443765.1_Missense_Mutation_p.R277Q	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	307					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ATATCGAAGTCGTATAAAAAG	0.353000													16	33					0	0	0.006122	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216179	20216179	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:20216179T>A	ENST00000331723.1	+	1	593	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTAGAGGTGCTGGTGATA	0.493000													25	36					0	0	0.002780	0	0
MUC5B	727897	broad.mit.edu	37	11	1263788	1263788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:1263788C>A	ENST00000447027.1	+	31	5745	c.5687C>A	c.(5686-5688)tCc>tAc	p.S1896Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1893	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAGCTCCACGGCCACG	0.612000													45	81					1.86633e-21	2.86499e-21	0.003610	1	0
GRM8	2918	broad.mit.edu	37	7	126544151	126544151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:126544151T>C	ENST00000339582.2	-	5	1701	c.893A>G	c.(892-894)aAc>aGc	p.N298S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	298					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCACTTTGGTTTAGTTTTTT	0.368000										HNSCC(24;0.065)			42	60					0	0	0.002222	0	0
TTN	7273	broad.mit.edu	37	2	179596593	179596593	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:179596593C>G	ENST00000589042.1	-	58	17233	c.17009G>C	c.(17008-17010)tGg>tCg	p.W5670S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5353	Ig-like 37.						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)			ATCTTTGAACCAAGTGATCTC	0.428000													37	139					0	0	0.004289	0	0
LYZL6	57151	broad.mit.edu	37	17	34266465	34266465	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:34266465G>T	ENST00000585556.1	-	0	230				LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame			O75951	LYZL6_HUMAN	lysozyme-like 6						cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGCAGCCAGGTTTCCTTAC	0.448000													8	23					0.00307968	0.00365386	0.003080	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110451290	110451290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:110451290G>A	ENST00000378402.5	+	32	4029	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1309	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATCTATGTAGAAGTCAGAAA	0.398000										HNSCC(38;0.096)			64	106					0	0	0.003610	0	0
PRRX1	5396	broad.mit.edu	37	1	170688866	170688866	+	Splice_Site	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:170688866G>C	ENST00000239461.6	+	2	554		c.e2-1		PRRX1_ENST00000367760.3_Splice_Site|PRRX1_ENST00000497230.2_Splice_Site	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCTATTCCAGATGACCAGCT	0.408000													14	19					0	0	0.003163	0	0
OR1N2	138882	broad.mit.edu	37	9	125315511	125315511	+	Silent	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:125315511G>C	ENST00000373688.2	+	1	121	c.63G>C	c.(61-63)gtG>gtC	p.V21V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGGCAGAGTGAACCAAACCA	0.448000													39	59					0	0	0.004289	0	0
RSRC1	51319	broad.mit.edu	37	3	157920993	157920993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:157920993G>C	ENST00000295930.3	+	4	615	c.453G>C	c.(451-453)aaG>aaC	p.K151N	RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	151				EK -> GE (in Ref. 3; AAF64267).	nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaaaggagaaggataaaggga	0.448000													9	25					0	0	0.004482	0	0
MYO7A	4647	broad.mit.edu	37	11	76916513	76916513	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:76916513C>T	ENST00000409709.3	+	40	5759	c.5487C>T	c.(5485-5487)agC>agT	p.S1829S	MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1829	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGTACAGCGAGGAGCGGG	0.677000													5	0					0	0	0.000602	0	0
AFF2	2334	broad.mit.edu	37	X	148072769	148072769	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:148072769G>T	ENST00000370460.2	+	21	4322	c.3843G>T	c.(3841-3843)atG>atT	p.M1281I	AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I|AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000286437.5_Missense_Mutation_p.M922I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1281					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)					ACACGCTGATGGGGCCTCTGA	0.493000													62	18					2.02796e-37	3.36391e-37	0.003610	1	0
PSKH2	85481	broad.mit.edu	37	8	87060915	87060915	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:87060915C>G	ENST00000276616.2	-	3	1008	c.934G>C	c.(934-936)Ggc>Cgc	p.G312R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	312	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGGCCTGGCCAGCTGACATG	0.512000													36	49					0	0	0.004289	0	0
FBXL7	23194	broad.mit.edu	37	5	15616151	15616151	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:15616151A>G	ENST00000504595.1	+	2	578	c.97A>G	c.(97-99)Aaa>Gaa	p.K33E	FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	33					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACGCCCACTAAAGCCCAGAA	0.453000													10	25					0	0	0.001368	0	0
TBX3	6926	broad.mit.edu	37	12	115109999	115109999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:115109999G>A	ENST00000349155.2	-	7	2782	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	TBX3_ENST00000257566.3_Missense_Mutation_p.P627S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	627	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGAGGAAGGGGTGGCGGTGC	0.682000													3	2					0	0	0.004672	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459000	45459000	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:45459000C>T	ENST00000548424.1	+	0	448																											AGTCAGTCCTCTCCCACTTTT	0.448000													10	17					0	0	0.006214	0	0
OR5P2	120065	broad.mit.edu	37	11	7818034	7818034	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:7818034A>G	ENST00000329434.2	-	1	486	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGGAGACAGCAATGAGAA	0.388000													31	44					0	0	0.002096	0	0
LRP4	4038	broad.mit.edu	37	11	46908046	46908046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:46908046T>C	ENST00000378623.1	-	17	2496	c.2254A>G	c.(2254-2256)Atc>Gtc	p.I752V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	752					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCGACGGATGTCCATCCTT	0.517000													25	34					0	0	0.006320	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945358	16945358	+	RNA	SNP	G	G	C	rs945905	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161																											AGTAGGAGAAGAGAGAGGAAG	0.567000													6	8					0	0	0.001168	0	0
CCDC150	284992	broad.mit.edu	37	2	197538986	197538986	+	Missense_Mutation	SNP	A	A	G	rs36060491		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:197538986A>G	ENST00000389175.4	+	10	1186	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	351										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAATTGACTAAAAAGTGTTC	0.343000													7	9					0	0	0.001984	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994844	143994844	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:143994844C>A	ENST00000323110.2	-	6	980	c.978G>T	c.(976-978)acG>acT	p.T326T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	326					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCAAAGAGCGTCATCAGCA	0.622000									Familial Hyperaldosteronism type I				27	151					3.73148e-12	5.08178e-12	0.007291	1	0
ARHGAP17	55114	broad.mit.edu	37	16	24980081	24980081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:24980081C>A	ENST00000289968.6	-	5	354	c.285G>T	c.(283-285)gaG>gaT	p.E95D	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	95	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTCCACACGTCTCCAGCATCT	0.507000													27	38					2.41591e-17	3.53794e-17	0.004656	1	0
SLC15A1	6564	broad.mit.edu	37	13	99364806	99364806	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr13:99364806A>G	ENST00000376503.5	-	10	811	c.756T>C	c.(754-756)agT>agC	p.S252S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	252					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GAAATGCCTTACTCCGATGCC	0.433000													37	92					0	0	0.007835	0	0
COX10	1352	broad.mit.edu	37	17	13977709	13977709	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:13977709A>G	ENST00000261643.3	+	2	190	c.113A>G	c.(112-114)cAt>cGt	p.H38R	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.H38R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	38					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AAGTTCTTACATCTTCTCAGG	0.403000													63	95					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179465721	179465721	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:179465721C>A	ENST00000589042.1	-	288	56134	c.55910G>T	c.(55909-55911)cGt>cTt	p.R18637L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 35.						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)			TTCCACATCACGCTTATTGCA	0.488000													138	102					2.82259e-58	4.70432e-58	0.003610	1	0
OR5H1	26341	broad.mit.edu	37	3	97852283	97852283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:97852283G>T	ENST00000354565.2	+	1	742	c.742G>T	c.(742-744)Gtc>Ttc	p.V248F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTCTTCTCTGTCTCTTTATA	0.413000													45	160					3.7052e-28	5.86797e-28	0.003214	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276680	185276680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:185276680G>C	ENST00000367498.3	-	6	1094	c.472C>G	c.(472-474)Cag>Gag	p.Q158E	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	158	BACK.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAATGCTCCTGAATATAAGCA	0.363000													25	70					0	0	0.004656	0	0
APOB	338	broad.mit.edu	37	2	21228818	21228818	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:21228818G>T	ENST00000233242.1	-	26	11049	c.10922C>A	c.(10921-10923)tCt>tAt	p.S3641Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAAGACCCAGAATGAATCCG	0.463000													14	26					1.5842e-08	2.04602e-08	0.001855	1	0
C1orf173	127254	broad.mit.edu	37	1	75037100	75037100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:75037100C>A	ENST00000326665.5	-	14	4512	c.4294G>T	c.(4294-4296)Ggc>Tgc	p.G1432C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1432	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTGGAGTGCCCACCCCAGCC	0.612000													58	33					2.43698e-19	3.67648e-19	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:113697930C>A	ENST00000297405.5	-	15	2431	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4.					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						GAACTGTTCCCATTGGTGCAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	64					1.74197e-06	2.16202e-06	0.006320	1	0
PMFBP1	83449	broad.mit.edu	37	16	72188112	72188112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:72188112C>T	ENST00000537465.1	-	4	570	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	138										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTCTATACCTCATCTTCTTTC	0.463000													42	68					0	0	0.002522	0	0
MUC16	94025	broad.mit.edu	37	19	9000496	9000496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:9000496C>A	ENST00000397910.4	-	54	40691	c.40488G>T	c.(40486-40488)atG>atT	p.M13496I	MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13498	SEA 10.				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						CAGGGTGATGCATGTTCTCCT	0.478000													33	66					9.65021e-13	1.32975e-12	0.002096	1	0
HMCN1	83872	broad.mit.edu	37	1	185946936	185946936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:185946936C>T	ENST00000271588.4	+	16	2618	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	797	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTTTCATACAAGAACCTGC	0.343000													49	61					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117709005	117709005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:117709005G>A	ENST00000368508.3	-	13	2150	c.1952C>T	c.(1951-1953)gCa>gTa	p.A651V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	651	Fibronectin type-III 3.				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)		TGGAGAACTTGCTCTCACAGA	0.488000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								50	70					0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32404497	32404497	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:32404497G>T	ENST00000357033.4	-	33	4810	c.4604C>A	c.(4603-4605)aCg>aAg	p.T1535K	DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	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	1535	Interaction with SYNM (By similarity).				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)				GGGATTTTCCGTCTGCTTTTT	0.383000													49	13					2.43139e-17	3.54578e-17	0.003610	1	0
ZNF560	147741	broad.mit.edu	37	19	9577562	9577562	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:9577562G>A	ENST00000301480.4	-	10	2274	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	687					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						TTCCACATGCGTTACATTCAG	0.373000													69	111					0	0	0.003610	0	0
NUDT9	53343	broad.mit.edu	37	4	88344060	88344060	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:88344060G>A	ENST00000302174.4	+	1	327	c.3G>A	c.(1-3)atG>atA	p.M1I	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	1						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGGCGCTCATGGCGGGACGCC	0.672000													32	52					0	0	0.001786	0	0
ROS1	6098	broad.mit.edu	37	6	117683782	117683782	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:117683782C>A	ENST00000368508.3	-	21	3563	c.3365G>T	c.(3364-3366)tGc>tTc	p.C1122F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1122	Fibronectin type-III 5.				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)		GGCAATAAAGCATCTGGGACT	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	26					0.00010058	0.00012181	0.001368	1	0
WDR96	80217	broad.mit.edu	37	10	105893540	105893540	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:105893540A>G	ENST00000357060.3	-	35	4549	c.4434T>C	c.(4432-4434)acT>acC	p.T1478T	WDR96_ENST00000428666.1_Silent_p.T1450T|WDR96_ENST00000479392.1_5'UTR	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1478										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTCCTTGAGTCTTTAAAA	0.318000													15	31					0	0	0.004007	0	0
NUP210L	91181	broad.mit.edu	37	1	154034118	154034118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:154034118C>T	ENST00000368559.3	-	18	2658	c.2587G>A	c.(2587-2589)Ggg>Agg	p.G863R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	863						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTACAGTCCCTTTTATCTGA	0.338000													27	53					0	0	0.002836	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473030	22473030	+	RNA	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:22473030G>T	ENST00000557788.2	-	0	240																											TTGAGGGACGGGTTGTAGTTG	0.567000													65	159					6.20203e-27	9.73413e-27	0.003610	1	0
CLCNKA	1187	broad.mit.edu	37	1	16358311	16358311	+	Missense_Mutation	SNP	A	A	G	rs139001368		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:16358311A>G	ENST00000375692.1	+	17	1857	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A	CLCNKA_ENST00000331433.4_Missense_Mutation_p.T577A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A|CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	577	CBS 1.				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)	CACAGACGTGACCGAGTATCC	0.607000													4	41					0	0	0.006214	0	0
STIL	6491	broad.mit.edu	37	1	47717390	47717390	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:47717390G>A	ENST00000360380.3	-	18	3645	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	STIL_ENST00000371877.3_Silent_p.S1095S|STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGGAGAAGGCTGAATGGGT	0.373000													69	42					0	0	0.003610	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139424	90139424	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:90139424C>A	ENST00000492446.1	+	0	222																											CAGAGAAAGCCCCTAAGTCCC	0.522000													103	218					3.52173e-36	5.81417e-36	0.003610	1	0
OR5T3	390154	broad.mit.edu	37	11	56019812	56019812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:56019812G>C	ENST00000303059.3	+	1	137	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373000													41	67					0	0	0.003214	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913203	143913203	+	Silent	SNP	T	T	C	rs146989390	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:143913203T>C	ENST00000409869.1	+	3	321	c.144T>C	c.(142-144)gaT>gaC	p.D48D	ARHGAP15_ENST00000295095.6_Silent_p.D48D			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCTCACCGATGTCGGGAAGG	0.423000													26	23					0	0	0.007291	0	0
CSMD3	114788	broad.mit.edu	37	8	113246662	113246662	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:113246662G>T	ENST00000297405.5	-	68	10916	c.10672C>A	c.(10672-10674)Ctt>Att	p.L3558I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3558						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						ACTTTAATAAGATATATGCGT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			50	95					1.4374e-25	2.24594e-25	0.003610	1	0
CDH9	1007	broad.mit.edu	37	5	26885803	26885803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:26885803G>T	ENST00000231021.4	-	11	1974	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	601	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCTTCTGCGGTGCAGGATTG	0.488000													6	20					5.9392e-07	7.45061e-07	0.001168	1	0
FAM188A	80013	broad.mit.edu	37	10	15828592	15828592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:15828592C>A	ENST00000378036.1	-	4	1375	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	362					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGAAATGGGCCCAATAATATG	0.338000													38	77					6.97489e-18	1.02572e-17	0.004878	1	0
GAA	2548	broad.mit.edu	37	17	78081647	78081647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:78081647G>A	ENST00000302262.3	+	5	1126	c.907G>A	c.(907-909)Gac>Aac	p.D303N	GAA_ENST00000390015.3_Missense_Mutation_p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	303					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGCGCTGGAGGACGGCGGGTC	0.687000													3	25					0	0	0.004672	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709388	31709388	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:31709388C>A	ENST00000382835.2	-	1	624	c.599G>T	c.(598-600)gGt>gTt	p.G200V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	200						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGAACCACCAGTAACACA	0.408000													14	29					0.000219431	0.000263921	0.002450	1	0
FAM60A	58516	broad.mit.edu	37	12	31435799	31435799	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:31435799C>T	ENST00000337682.4	-	6	881	c.513G>A	c.(511-513)aaG>aaA	p.K171K	FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K|FAM60A_ENST00000539409.1_Silent_p.K23K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	171										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CACAACATATCTTCTGTCTAA	0.353000													17	29					0	0	0.007413	0	0
AGL	178	broad.mit.edu	37	1	100327061	100327061	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:100327061T>C	ENST00000294724.4	+	3	563	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000361522.4_Missense_Mutation_p.Y12H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	29					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTATTTAGGGTATGAGCTACA	0.308000													12	9					0	0	0.001368	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627413	140627413	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140627413C>A	ENST00000231173.3	+	1	2267	c.2267C>A	c.(2266-2268)aCg>aAg	p.T756K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		756					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGTCTGACGGGAGGCTCT	0.517000													71	120					4.98182e-18	7.38829e-18	0.003610	1	0
INHBA	3624	broad.mit.edu	37	7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612000										TSP Lung(11;0.080)			187	256					7.59282e-81	1.27764e-80	0.003610	1	0
MSC	9242	broad.mit.edu	37	8	72754902	72754902	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:72754902G>T	ENST00000325509.4	-	2	904	c.615C>A	c.(613-615)acC>acA	p.T205T	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	205					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGATTTAAGCGGTGGTTCCAC	0.493000													200	317					3.50731e-122	5.98809e-122	0.003610	1	0
STK31	56164	broad.mit.edu	37	7	23827673	23827673	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:23827673A>G	ENST00000354639.3	+	21	2957	c.2493A>G	c.(2491-2493)tcA>tcG	p.S831S	STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000428484.1_Silent_p.S831S|STK31_ENST00000355870.3_Silent_p.S854S|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	854	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCATGGATCACTTCATCAGA	0.353000													33	93					0	0	0.002836	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029194	41029194	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:41029194C>A	ENST00000244669.2	+	2	303	c.259C>A	c.(259-261)Cgg>Agg	p.R87R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	87					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGCATCTCGGGGATACCT	0.567000													36	82					4.34311e-12	5.89181e-12	0.003271	1	0
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:201468754C>G	ENST00000374700.2	+	8	844	c.603C>G	c.(601-603)ctC>ctG	p.L201L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	201					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383000													32	30					0	0	0.002836	0	0
VKORC1	79001	broad.mit.edu	37	16	31105904	31105904	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:31105904G>A	ENST00000319788.7	-	1	357	c.147C>T	c.(145-147)atC>atT	p.I49I	RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000300851.6_Silent_p.I49I|VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000394975.2_Silent_p.I49I			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	49					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCGAACAGCTGATGGCGGTGC	0.682000													12	11					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:33954863G>C	ENST00000389232.4	+	35	5202	c.5132G>C	c.(5131-5133)cGa>cCa	p.R1711P	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1711L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCCACATCCGAGACCCTGTA	0.562000													23	18					0	0	0.003330	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098973	178098973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:178098973C>G	ENST00000397062.3	-	2	626	c.72G>C	c.(70-72)tgG>tgC	p.W24C	NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W24C(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TATCTTGCCTCCAAAGTATGT	0.348000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			19	20					0	0	0.006122	0	0
SLC24A5	283652	broad.mit.edu	37	15	48434437	48434437	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:48434437C>T	ENST00000341459.3	+	9	1465	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Silent_p.D404D	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	464					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAACTAGACAGAAAGTTGG	0.343000													40	20					0	0	0.006999	0	0
MAGI3	260425	broad.mit.edu	37	1	114216018	114216018	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:114216018G>A	ENST00000369615.1	+	19	3182	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	MAGI3_ENST00000369611.4_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000307546.9_Silent_p.E1040E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1065					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)		GGGGGAAGGAGTACAACATGG	0.488000													64	39					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26242187	26242187	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:26242187C>A	ENST00000335473.7	+	19	3739	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T	MYO18B_ENST00000407587.2_Silent_p.T1164T|MYO18B_ENST00000536101.1_Silent_p.T1163T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAGGACCTTTGCCAGCA	0.672000													27	36					1.04121e-07	1.33002e-07	0.005443	1	0
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:88763681G>C	ENST00000237201.1	+	2	343	c.226G>C	c.(226-228)Gtc>Ctc	p.V76L		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348000													8	20					0	0	0.008291	0	0
GLUD1	2746	broad.mit.edu	37	10	88836358	88836358	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:88836358C>T	ENST00000277865.4	-	2	597	c.501G>A	c.(499-501)ctG>ctA	p.L167L	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	167					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTATGTCATCAGAGAAGCCA	0.413000													25	36					0	0	0.004656	0	0
KCNN2	3781	broad.mit.edu	37	5	113831815	113831815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:113831815G>T	ENST00000512097.3	+	9	2694	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	559						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GAGCGGTCCCGGTCCTCGTCC	0.512000													31	74					2.08457e-15	2.96585e-15	0.002096	1	0
OR2AT4	341152	broad.mit.edu	37	11	74800246	74800246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:74800246C>G	ENST00000305159.3	-	1	553	c.513G>C	c.(511-513)atG>atC	p.M171I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTTATATGCCATCTGGGAGG	0.572000													25	9					0	0	0.003954	0	0
HECTD4	283450	broad.mit.edu	37	12	112622228	112622228	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:112622228G>A	ENST00000550722.1	-	61	10499	c.10104C>T	c.(10102-10104)gcC>gcT	p.A3368A	HECTD4_ENST00000377560.5_Silent_p.A3342A|HECTD4_ENST00000430131.2_Silent_p.A3092A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTCGAGGCCGGCAGGCAGCG	0.677000													11	1					0	0	0.008291	0	0
HDHD1	8226	broad.mit.edu	37	X	7023726	7023726	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:7023726T>C	ENST00000381077.5	-	2	291	c.215A>G	c.(214-216)gAg>gGg	p.E72G	HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	72					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						CACCAGCTCCTCTTTGGACAT	0.502000													16	0					0	0	0.004007	0	0
RELT	84957	broad.mit.edu	37	11	73101965	73101965	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:73101965G>T	ENST00000064780.2	+	4	547	c.287_splice	c.e4+1	p.G96_splice	RELT_ENST00000393580.2_Splice_Site_p.G96_splice	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	96						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTGCTGGCCTGGGTAAGCCAA	0.632000													24	19					1.77063e-15	2.52947e-15	0.005443	1	0
GRIN2A	2903	broad.mit.edu	37	16	10274094	10274094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:10274094G>T	ENST00000396573.2	-	3	484	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	59					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGCCGCCTGCTCGGGGCCC	0.657000													44	77					1.8453e-21	2.84517e-21	0.002522	1	0
MRPL39	54148	broad.mit.edu	37	21	26960033	26960033	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:26960033G>A	ENST00000307301.7	-	10	1079	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	MRPL39_ENST00000352957.4_Intron	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	0						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCCATGGAGGAGGTACGACT	0.348000													15	38					0	0	0.003163	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913079	143913079	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:143913079C>G	ENST00000409869.1	+	3	197	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	7					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTACAAATTCTGATACTTCC	0.373000													11	18					0	0	0.008291	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795413	142795413	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:142795413G>T	ENST00000370498.1	-	2	1018	c.265C>A	c.(265-267)Cta>Ata	p.L89I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	89										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAGTCTAGGCCTTCGTCC	0.488000													252	73					9.62967e-114	1.63611e-113	0.003610	1	0
FBN1	2200	broad.mit.edu	37	15	48818391	48818391	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:48818391G>A	ENST00000316623.5	-	9	1379	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	308	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTAACTGCTGACTGTGTTTG	0.403000													50	11					0	0	0.003610	0	0
PBX2	5089	broad.mit.edu	37	6	32154610	32154610	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:32154610C>T	ENST00000375050.4	-	7	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	365							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512000													30	55					0	0	0.002445	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651373	15651373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:15651373C>T	ENST00000269703.2	+	8	983	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	262						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCGGATGGGCGGAGGTTCCG	0.607000													29	90					0	0	0.007291	0	0
TCEANC2	127428	broad.mit.edu	37	1	54562036	54562036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:54562036C>T	ENST00000234827.1	+	5	717	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	173	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						GCCGTACCGGCGGACGGTGAG	0.512000													38	20					0	0	0.004878	0	0
KIF26B	55083	broad.mit.edu	37	1	245849620	245849620	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:245849620G>T	ENST00000366518.4	+	9	2296	c.2192G>T	c.(2191-2193)gGc>gTc	p.G731V	KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGATTCCGGCGTGGCGTCT	0.612000													56	125					3.31993e-32	5.37951e-32	0.003610	1	0
OR2T1	26696	broad.mit.edu	37	1	248569514	248569514	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:248569514C>A	ENST00000366474.1	+	1	219	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGGAAACCTCAGGTCTTA	0.423000													83	73					1.20873e-29	1.93176e-29	0.003610	1	0
MITD1	129531	broad.mit.edu	37	2	99797327	99797327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:99797327C>T	ENST00000289359.2	-	1	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	40	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TCAATCCCCTCTTGGTAACAC	0.582000													65	104					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438354	25438354	+	RNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:25438354C>G	ENST00000424208.1	+	0	1213				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GTGCTGAGCCCCTGGTGCACT	0.597000													46	16					0	0	0.002222	0	0
IARS	3376	broad.mit.edu	37	9	95009669	95009669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:95009669G>T	ENST00000375643.3	-	26	3047	c.2781C>A	c.(2779-2781)ttC>ttA	p.F927L	IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.F927L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	927					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGTCTTCTGGAACTGCTCCA	0.483000													24	53					2.24059e-21	3.42449e-21	0.006320	1	0
TRIM39	56658	broad.mit.edu	37	6	30297275	30297275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:30297275G>A	ENST00000376659.5	+	3	779	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542000													48	83					0	0	0.003610	0	0
OR4A47	403253	broad.mit.edu	37	11	48511249	48511249	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:48511249G>T	ENST00000446524.1	+	1	981	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCTGGAGAAGAGACCTCATA	0.413000													28	50					1.77063e-15	2.52947e-15	0.005443	1	0
KANSL1L	151050	broad.mit.edu	37	2	210893657	210893657	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:210893657A>C	ENST00000281772.9	-	11	2571	c.2308T>G	c.(2308-2310)Tat>Gat	p.Y770D	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	770																	TCTATGTCATAAGAGCTCTCA	0.368000													45	65					0	0	0.003214	0	0
MYO18B	84700	broad.mit.edu	37	22	26242186	26242186	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:26242186C>A	ENST00000335473.7	+	19	3738	c.3488C>A	c.(3487-3489)aCc>aAc	p.T1163N	MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGGAGGACCTTTGCCAGC	0.667000													27	36					1.04121e-07	1.33002e-07	0.005443	1	0
TNS1	7145	broad.mit.edu	37	2	218751275	218751275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:218751275T>A	ENST00000171887.4	-	11	1038	c.586A>T	c.(586-588)Aac>Tac	p.N196Y	TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y|TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	196	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTCAAAGTTGGGGATGCCG	0.522000											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	5					0	0	0.003163	0	0
CPS1	1373	broad.mit.edu	37	2	211473158	211473158	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:211473158G>A	ENST00000233072.5	+	19	2462	c.2266G>A	c.(2266-2268)Ggg>Agg	p.G756R	CPS1_ENST00000451903.2_Missense_Mutation_p.G305R|CPS1_ENST00000430249.2_Missense_Mutation_p.G762R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	756					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CGTCGTATCCGGGAAGACATC	0.433000													76	85					0	0	0.003610	0	0
AKAP13	11214	broad.mit.edu	37	15	86124699	86124699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:86124699G>A	ENST00000394518.2	+	7	3495	c.3400G>A	c.(3400-3402)Gtg>Atg	p.V1134M	AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1134					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGTTTGCCAGTGGCTCTACA	0.507000													64	19					0	0	0.003610	0	0
PABPC4	8761	broad.mit.edu	37	1	40030930	40030930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:40030930C>A	ENST00000372857.3	-	8	1885	c.1093G>T	c.(1093-1095)Gtt>Ttt	p.V365F	PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	365	RRM 4.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAGGGCAACATATAGTGGC	0.507000													30	17					8.4185e-14	1.16924e-13	0.002445	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170044	207170044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:207170044G>C	ENST00000374423.3	+	5	1178	c.792G>C	c.(790-792)atG>atC	p.M264I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	264							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTTACGCATGAATTCAGATA	0.388000													30	25					0	0	0.008361	0	0
UBBP4	23666	broad.mit.edu	37	17	21731491	21731491	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:21731491C>A	ENST00000578713.1	+	2	570	c.566C>A	c.(565-567)cCc>cAc	p.P189H	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGGCATCCCCCCCGATCAG	0.537000													21	37					2.37509e-13	3.2857e-13	0.001523	1	0
HSF2BP	11077	broad.mit.edu	37	21	45076541	45076541	+	Silent	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:45076541T>A	ENST00000291560.2	-	3	445	c.114A>T	c.(112-114)atA>atT	p.I38I	HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	38					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGAAGTCCCGTATTTGCATCA	0.393000													39	51					0	0	0.006999	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847532	88847532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:88847532G>T	ENST00000333190.4	+	2	781	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTTACTGTGAATTATGTGA	0.368000										HNSCC(36;0.09)			26	29					1.1804e-14	1.67263e-14	0.003954	1	0
CCDC132	55610	broad.mit.edu	37	7	92887685	92887685	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:92887685G>T	ENST00000544910.1	+	9	687	c.467G>T	c.(466-468)cGg>cTg	p.R156L	CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299000													20	52					3.5997e-14	5.05982e-14	0.002299	1	0
OR52L1	338751	broad.mit.edu	37	11	6007529	6007529	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:6007529G>T	ENST00000332249.4	-	1	686	c.632C>A	c.(631-633)aCa>aAa	p.T211K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGATTGACTGTGGTTTCTGA	0.493000													55	99					5.22555e-25	8.12864e-25	0.003610	1	0
GRIA4	2893	broad.mit.edu	37	11	105789531	105789531	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:105789531G>C	ENST00000393127.2	+	11	1809	c.1363G>C	c.(1363-1365)Gca>Cca	p.A455P	GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	455					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATCTGAAATTGCAAAACATAT	0.353000													13	5					0	0	0.001368	0	0
PDE10A	10846	broad.mit.edu	37	6	165957010	165957010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:165957010C>A	ENST00000366882.1	-	3	238	c.84G>T	c.(82-84)caG>caT	p.Q28H	PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	28					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Q28fs*5(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATCTAATACCTGGGGGTGAA	0.358000													18	28					5.03518e-11	6.72639e-11	0.007413	1	0
THRA	7067	broad.mit.edu	37	17	38249328	38249328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:38249328C>A	ENST00000264637.4	+	10	1746	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|NR1D1_ENST00000246672.3_3'UTR	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	389					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GAAGGCCGGCCGGGCGGGTCA	0.552000													31	57					4.4194e-11	5.9264e-11	0.002836	1	0
ZNF878	729747	broad.mit.edu	37	19	12155285	12155285	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:12155285A>G	ENST00000602107.1	-	5	1071	c.1072T>C	c.(1072-1074)Tat>Cat	p.Y358H	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTACACTCATAGGGTTTCTCT	0.403000													33	74					0	0	0.002445	0	0
IGLJ2	28832	broad.mit.edu	37	22	23241819	23241819	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr22:23241819C>A	ENST00000390322.2	+	0	159																											GCGGAGGGACCAAGCTGACCG	0.542000													39	45					6.1244e-12	8.27622e-12	0.007835	1	0
ALG13	79868	broad.mit.edu	37	X	110924494	110924494	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:110924494C>T	ENST00000394780.3	+	1	60	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	16					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TTGACGACCTCATTGCGTGTG	0.632000													123	30					0	0	0.003610	0	0
BIRC6	57448	broad.mit.edu	37	2	32728276	32728276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:32728276G>A	ENST00000421745.2	+	49	9606	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3158					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGACAATGCTGAAGGGATTCA	0.338000													7	17					0	0	0.004482	0	0
RECQL5	9400	broad.mit.edu	37	17	73657115	73657115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:73657115C>G	ENST00000420326.2	-	6	1065	c.906G>C	c.(904-906)caG>caC	p.Q302H	RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	302	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAGTCGTTCTGCACCAGCG	0.512000								Other identified genes with known or suspected DNA repair function					14	110					0	0	0.001855	0	0
PANK3	79646	broad.mit.edu	37	5	168006280	168006280	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:168006280G>A	ENST00000239231.6	-	1	325	c.9C>T	c.(7-9)atC>atT	p.I3I		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	3					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGGCATCTTTGATCTTCATGG	0.706000													6	9					0	0	0.001984	0	0
OR5M1	390168	broad.mit.edu	37	11	56380788	56380788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:56380788C>T	ENST00000526538.1	-	1	190	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGAGGTGGCCAAGGAAGAA	0.468000													44	80					0	0	0.002852	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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)			AACACATGATCTAGATTCTGG	0.423000													7	24					0.00198382	0.00236975	0.001984	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110476802	110476802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:110476802C>A	ENST00000378402.5	+	49	7845	c.7741C>A	c.(7741-7743)Cac>Aac	p.H2581N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2581					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTGGCACTCACTTTGGCTT	0.463000										HNSCC(38;0.096)			24	35					2.21704e-12	3.0311e-12	0.002780	1	0
KRI1	65095	broad.mit.edu	37	19	10665770	10665770	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:10665770G>C	ENST00000312962.6	-	18	1811	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	KRI1_ENST00000361821.5_Missense_Mutation_p.R594G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	598										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tactcttctCGGCAGAGTGAC	0.592000													25	39					0	0	0.003330	0	0
TIAM1	7074	broad.mit.edu	37	21	32554912	32554912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:32554912C>T	ENST00000286827.3	-	16	3184	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	905	PDZ.				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						GAGTTCAGGGCGTCAGCAGCA	0.498000													5	63					0	0	0.000602	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711512	155711512	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:155711512A>G	ENST00000295101.2	+	3	1670	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	398					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTACTACAAAACTACCATCT	0.388000													64	98					0	0	0.003610	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65194605	65194605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr14:65194605C>T	ENST00000247226.7	+	2	564	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	86					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGGCAGGGCCTGCACACCA	0.637000													8	4					0	0	0.003080	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432909	73432909	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:73432909C>A	ENST00000263666.4	-	10	2922	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	936							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGCACGGGCCTCTTGGTGA	0.667000													19	13					3.99206e-14	5.56661e-14	0.007413	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161022564	161022564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:161022564G>A	ENST00000368013.3	-	7	1008	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	230					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGCGATCGCCACCCACTC	0.607000													27	39					0	0	0.006320	0	0
STK10	6793	broad.mit.edu	37	5	171488156	171488156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:171488156C>A	ENST00000176763.5	-	14	2542	c.2199G>T	c.(2197-2199)caG>caT	p.Q733H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	733							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGGAGCTCCTGCTTCTTCA	0.617000													71	140					9.12251e-31	1.46462e-30	0.003610	1	0
ERV3-1	2086	broad.mit.edu	37	7	64452342	64452342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:64452342C>A	ENST00000394323.2	-	2	1563	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		355						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cctactgggtctgtaaaggcc	0.433000													13	31					3.03607e-14	4.28478e-14	0.001368	1	0
CEP72	55722	broad.mit.edu	37	5	637653	637653	+	Missense_Mutation	SNP	C	C	T	rs143077618		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:637653C>T	ENST00000264935.5	+	7	1016	c.926C>T	c.(925-927)tCg>tTg	p.S309L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	309					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ACCGAGGACTCGGCCTCTTCT	0.527000													28	50					0	0	0.007291	0	0
ATP2C1	27032	broad.mit.edu	37	3	130698095	130698095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:130698095C>T	ENST00000510168.1	+	19	2123	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	525					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCCTAAGTTCTTGCTTTGGC	0.373000									Hailey-Hailey disease				8	164					0	0	0.003080	0	0
MYH4	4622	broad.mit.edu	37	17	10351339	10351339	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:10351339G>A	ENST00000255381.2	-	34	4871	c.4761C>T	c.(4759-4761)ctC>ctT	p.L1587L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1587					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTGATCGAGTTCTTCAT	0.418000													6	155					0	0	0.003080	0	0
ZNF716	441234	broad.mit.edu	37	7	57529071	57529071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:57529071G>T	ENST00000420713.1	+	4	1016	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGAAGAATGTGGCAAAGCCTT	0.418000													8	16					0.00307968	0.00365386	0.003080	1	0
DMD	1756	broad.mit.edu	37	X	32328320	32328320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:32328320G>A	ENST00000357033.4	-	42	6202	c.5996C>T	c.(5995-5997)aCt>aTt	p.T1999I	DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	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	1999					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)				AGTCAAATAAGTAGAAGGCAC	0.393000													21	7					0	0	0.001523	0	0
OR4C46	119749	broad.mit.edu	37	11	51515722	51515722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:51515722G>T	ENST00000328188.1	+	1	441	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGTGGTGTGGATGGGAGGCT	0.463000													75	119					1.15098e-32	1.87368e-32	0.003610	1	0
PRELP	5549	broad.mit.edu	37	1	203452824	203452824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:203452824G>A	ENST00000343110.2	+	2	639	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	171					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGCCCCGGAACCTGGAG	0.597000													5	149					0	0	0.001984	0	0
THEMIS	387357	broad.mit.edu	37	6	128222065	128222065	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:128222065G>T	ENST00000368250.1	-	0	274				THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AATTCTTCCAGTGATAATGCC	0.498000													51	69					9.57592e-29	1.52344e-28	0.003610	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140797510	140797510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140797510G>T	ENST00000398594.2	+	1	84	c.84G>T	c.(82-84)acG>acT	p.T28T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACCCCACGCTGTGTGAGC	0.632000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					5.50884e-06	6.78906e-06	0.001368	1	0
BAAT	570	broad.mit.edu	37	9	104133542	104133542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:104133542G>A	ENST00000259407.2	-	2	253	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	49					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCCCTATAGTGGGCTTGAGAA	0.488000													33	68					0	0	0.002096	0	0
ANO5	203859	broad.mit.edu	37	11	22301128	22301128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:22301128G>T	ENST00000324559.8	+	22	2876	c.2559G>T	c.(2557-2559)atG>atT	p.M853I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	853						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						TGGCCTGGATGATACCTGATG	0.358000													17	37					0.00074312	0.000890726	0.006122	1	0
DUSP12	11266	broad.mit.edu	37	1	161719654	161719654	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:161719654C>T	ENST00000367943.4	+	1	95	c.63C>T	c.(61-63)gtC>gtT	p.V21V	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	21					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCAGCAGAGTCAGCTGTGCCG	0.672000													4	16					0	0	0.000248	0	0
CACNA1E	777	broad.mit.edu	37	1	181680164	181680164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:181680164A>G	ENST00000526775.1	+	8	1295	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	377	Binding to the beta subunit (By similarity).				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						CAGCAGATTGAGCGTGAGCTG	0.577000													39	98					0	0	0.007835	0	0
KIDINS220	57498	broad.mit.edu	37	2	8936972	8936972	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:8936972T>C	ENST00000256707.3	-	11	1208	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	343					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCATCTTGGTAGCCTTTATA	0.418000													64	121					0	0	0.003610	0	0
WNT8B	7479	broad.mit.edu	37	10	102241771	102241771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:102241771G>A	ENST00000343737.5	+	5	598	c.470G>A	c.(469-471)cGg>cAg	p.R157Q		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	157					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAGGATGCACGGGCAGCCATG	0.592000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	48					0	0	0.004656	0	0
PRB2	653247	broad.mit.edu	37	12	11546873	11546873	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:11546873G>T	ENST00000389362.4	-	3	174	c.139C>A	c.(139-141)Cct>Act	p.P47T	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACCTTGAGGTTTGTTGCCT	0.537000													144	181					2.60356e-62	4.36003e-62	0.003610	1	0
RPS6KB1	6198	broad.mit.edu	37	17	58024140	58024140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr17:58024140G>C	ENST00000225577.4	+	15	1590	c.1569G>C	c.(1567-1569)atG>atC	p.M523I	RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	523	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGCGTATGAATCTATGAC	0.463000													31	45					0	0	0.003271	0	0
FMN2	56776	broad.mit.edu	37	1	240370643	240370643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:240370643C>T	ENST00000319653.9	+	5	2761	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562000													73	68					0	0	0.003610	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	152					0	0	0.001984	0	0
OR4X2	119764	broad.mit.edu	37	11	48267430	48267430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:48267430A>G	ENST00000302329.3	+	1	823	c.775A>G	c.(775-777)Ata>Gta	p.I259V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CACTCTGCCCATAGACAAGAT	0.512000													26	32					0	0	0.003330	0	0
IRF8	3394	broad.mit.edu	37	16	85946795	85946795	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:85946795G>T	ENST00000268638.5	+	5	928	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	169					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGGAGGCCTGTCGGAGTCAG	0.617000													48	88					6.17242e-35	1.00951e-34	0.003610	1	0
CYFIP1	23191	broad.mit.edu	37	15	22956494	22956494	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:22956494G>C	ENST00000313077.7	+	16	1856	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	577					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTGGTTCCAAGAAAACCTTGA	0.408000													32	15					0	0	0.001786	0	0
ANKRD50	57182	broad.mit.edu	37	4	125600031	125600031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:125600031T>G	ENST00000504087.1	-	3	1579	c.542A>C	c.(541-543)aAg>aCg	p.K181T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	181										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGGGGAGGCTTCATTCCCAG	0.398000													3	99					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139165165	139165165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:139165165C>A	ENST00000395297.1	-	13	1723	c.1553G>T	c.(1552-1554)tGt>tTt	p.C518F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	518								p.C518F(2)		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)			GCCAGTCCAACATTCATCTTC	0.463000										HNSCC(54;0.14)			41	165					2.24893e-16	3.25259e-16	0.002222	1	0
NPY4R	5540	broad.mit.edu	37	10	47087602	47087602	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:47087602C>A	ENST00000374312.1	+	3	1238	c.819C>A	c.(817-819)gcC>gcA	p.A273A	NPY4R_ENST00000395716.1_Silent_p.A273A	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGGTGGTGGCCTTTGCTGTGC	0.587000													20	87					3.99206e-14	5.56661e-14	0.007413	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253706	32253706	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr21:32253706G>T	ENST00000332378.4	-	1	168	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	46						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGCCAGTCTGGAAGGAACTGG	0.582000													24	39					6.21321e-17	9.02334e-17	0.002780	1	0
CAPN6	827	broad.mit.edu	37	X	110491846	110491846	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrX:110491846T>G	ENST00000324068.1	-	10	1602	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	479	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AACTCGCTGGTGCGACCATGC	0.502000													15	4					0	0	0.004007	0	0
MAMDC4	158056	broad.mit.edu	37	9	139754408	139754408	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:139754408G>A	ENST00000445819.1	+	28	3551	c.3501G>A	c.(3499-3501)gtG>gtA	p.V1167V	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.V1088V			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1167					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCTCCTGGTGCTGCTGGGAC	0.627000													24	29					0	0	0.003954	0	0
FUK	197258	broad.mit.edu	37	16	70499039	70499039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:70499039C>T	ENST00000288078.6	+	4	477	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	82						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGTCACATCCGATGTCCTG	0.572000													11	14					0	0	0.001855	0	0
NPY5R	4889	broad.mit.edu	37	4	164272687	164272687	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr4:164272687A>G	ENST00000515560.1	+	4	2784	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328000													45	20					0	0	0.003610	0	0
CPQ	10404	broad.mit.edu	37	8	97978226	97978226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr8:97978226G>A	ENST00000220763.5	+	5	1123	c.913G>A	c.(913-915)Ggt>Agt	p.G305S		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	305					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGATGATGGCGGTGGAGCCTT	0.378000													3	56					0	0	0.000602	0	0
PKD2L1	9033	broad.mit.edu	37	10	102050202	102050202	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr10:102050202C>A	ENST00000318222.3	-	13	2464	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	694					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCTGGCAGCCTCTGGACCCG	0.527000													8	23					0.000157383	0.000189945	0.003080	1	0
DCHS1	8642	broad.mit.edu	37	11	6643935	6643935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr11:6643935C>T	ENST00000299441.3	-	21	9383	c.8972G>A	c.(8971-8973)cGg>cAg	p.R2991Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2991					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)		AGGTGGCTCCCGGCCCAGTTT	0.642000													5	5					0	0	0.000602	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699803	151699803	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:151699803T>A	ENST00000392800.2	+	6	917	c.663T>A	c.(661-663)gaT>gaA	p.D221E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCCCAGGGGATGTTCTGGTGT	0.498000													25	12					0	0	0.002780	0	0
PLXNA1	5361	broad.mit.edu	37	3	126736700	126736700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:126736700G>A	ENST00000251772.4	+	18	3625	c.3556G>A	c.(3556-3558)Gag>Aag	p.E1186K	PLXNA1_ENST00000393409.2_Missense_Mutation_p.E1209K			Q9UIW2	PLXA1_HUMAN	plexin A1	1209	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCTGTGCGAGGCGCCCAA	0.662000													22	71					0	0	0.002780	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955542	12955542	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:12955542A>C	ENST00000235347.4	-	2	216	c.137T>G	c.(136-138)aTg>aGg	p.M46R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	46										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACGTCTCATGCTGAAGGC	0.572000													33	21					0	0	0.002852	0	0
PGM5	5239	broad.mit.edu	37	9	71098829	71098829	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:71098829G>T	ENST00000396396.1	+	9	1573	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	448					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATATCATGAGGGACCTGGAGG	0.507000													29	57					7.38237e-10	9.67726e-10	0.006320	1	0
ENPP3	5169	broad.mit.edu	37	6	132061454	132061454	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr6:132061454C>T	ENST00000414305.1	+	25	2719	c.2391C>T	c.(2389-2391)tgC>tgT	p.C797C	ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	797	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGGAAAACTGCCCTGGGTGGC	0.512000													31	50					0	0	0.002096	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718609	140718609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr5:140718609G>T	ENST00000394576.2	+	1	71	c.71G>T	c.(70-72)tGg>tTg	p.W24L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACCCTGTGGGAGGCCAGG	0.577000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	42					1.67942e-08	2.16101e-08	0.006122	1	0
CMTM1	113540	broad.mit.edu	37	16	66603837	66603837	+	Splice_Site	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:66603837A>T	ENST00000379500.2	+	2	499		c.e2-1		CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000328020.6_Splice_Site|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000457188.2_Splice_Site	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTTTTATTGCAGAGTCTTATC	0.323000													31	57					0	0	0.001786	0	0
ZNF112	7665	broad.mit.edu	37	19	44832694	44832694	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:44832694C>G	ENST00000354340.4	-	4	1667	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T|ZNF112_ENST00000337401.4_Missense_Mutation_p.R545T	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGTGTGGACTCTCTGATGAAC	0.423000													61	101					0	0	0.003610	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142291	71142291	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr7:71142291G>T	ENST00000333538.5	+	9	2134	c.1500_splice	c.e9+1	p.Q500_splice	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	500	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGACCACAGGTAGGAGCTC	0.537000													61	111					1.03172e-35	1.69532e-35	0.003610	1	0
LAMA1	284217	broad.mit.edu	37	18	7079974	7079974	+	Splice_Site	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr18:7079974C>G	ENST00000389658.3	-	3	438	c.345_splice	c.e3+1	p.Q115_splice	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	115	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCACCTACCTGTCTTAAGT	0.468000													9	59					0	0	0.004482	0	0
ABCD2	225	broad.mit.edu	37	12	39947723	39947723	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:39947723C>G	ENST00000308666.3	-	10	2349	c.2214G>C	c.(2212-2214)gaG>gaC	p.E738D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTAAGATGTCTCATCTTCAT	0.323000													4	7					0	0	0.000248	0	0
NPAP1	23742	broad.mit.edu	37	15	24923926	24923926	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr15:24923926C>G	ENST00000329468.2	+	1	3386	c.2912C>G	c.(2911-2913)gCt>gGt	p.A971G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AATGCAAGTGCTTTCCCCAAT	0.483000													28	16					0	0	0.005443	0	0
RYR2	6262	broad.mit.edu	37	1	237660034	237660034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:237660034G>C	ENST00000366574.2	+	20	2502	c.2185G>C	c.(2185-2187)Ggc>Cgc	p.G729R	RYR2_ENST00000542537.1_Missense_Mutation_p.G713R|RYR2_ENST00000360064.6_Missense_Mutation_p.G727R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	729	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTTGATGGCCTTCATCT	0.493000													65	188					0	0	0.003610	0	0
LUM	4060	broad.mit.edu	37	12	91502199	91502199	+	Silent	SNP	G	G	C	rs144214151		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:91502199G>C	ENST00000266718.4	-	2	1012	c.558C>G	c.(556-558)ctC>ctG	p.L186L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	186					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGGTATTCGAGTGATTTAA	0.433000													40	12					0	0	0.006230	0	0
INHBA	3624	broad.mit.edu	37	7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612000										TSP Lung(11;0.080)			187	256					7.59282e-81	1.26672e-80	0.014410	1	0
CCDC181	57821	broad.mit.edu	37	1	169390813	169390813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:169390813C>T	ENST00000545005.1	-	4	1363	c.856G>A	c.(856-858)Gag>Aag	p.E286K	CCDC181_ENST00000367805.3_Missense_Mutation_p.E286K|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.E286K					coiled-coil domain containing 181																		GCCAGCGGCTCTCCTGTTGAT	0.473000													53	142					0	0	0.014410	0	0
ROS1	6098	broad.mit.edu	37	6	117683782	117683782	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:117683782C>A	ENST00000368508.3	-	21	3563	c.3365G>T	c.(3364-3366)tGc>tTc	p.C1122F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C1117F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1122	Fibronectin type-III 5.				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)		GGCAATAAAGCATCTGGGACT	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	26					0.00010058	0.000120197	0.013537	1	0
WDR96	80217	broad.mit.edu	37	10	105893540	105893540	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:105893540A>G	ENST00000357060.3	-	35	4549	c.4434T>C	c.(4432-4434)acT>acC	p.T1478T	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.T1450T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1478										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTCCTTGAGTCTTTAAAA	0.318000													15	31					0	0	0.004007	0	0
ZIM3	114026	broad.mit.edu	37	19	57646307	57646307	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:57646307C>T	ENST00000269834.1	-	5	1783	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTTCTGGTGCCTAA	0.428000													49	70					0	0	0.014410	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	20					0	0	0.001168	0	0
NUP210L	91181	broad.mit.edu	37	1	154034118	154034118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:154034118C>T	ENST00000368559.3	-	18	2658	c.2587G>A	c.(2587-2589)Ggg>Agg	p.G863R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G863R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	863						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTACAGTCCCTTTTATCTGA	0.338000													27	53					0	0	0.013726	0	0
ALG13	79868	broad.mit.edu	37	X	110924494	110924494	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:110924494C>T	ENST00000394780.3	+	1	60	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ALG13_ENST00000371979.3_Silent_p.L16L|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	16					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TTGACGACCTCATTGCGTGTG	0.632000													123	30					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39446956	39446956	+	Silent	SNP	G	G	T	rs147947821		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:39446956G>T	ENST00000280481.7	+	17	8277	c.8061G>T	c.(8059-8061)ggG>ggT	p.G2687G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCCGTGGGGGTAGGAGGCT	0.488000													40	64					9.8876e-21	1.49422e-20	0.004878	1	0
PEAK1	79834	broad.mit.edu	37	15	77474169	77474169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:77474169C>T	ENST00000560626.2	-	4	575	c.100G>A	c.(100-102)Gag>Aag	p.E34K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E34K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E34K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	34					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGTGCCTTCTCAGGGTCTGGG	0.468000													8	182					0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:82582174G>T	ENST00000423517.2	-	5	8432	c.8095C>A	c.(8095-8097)Cct>Act	p.P2699T	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000													18	47					3.32936e-07	4.12498e-07	0.006122	1	0
PLXNA1	5361	broad.mit.edu	37	3	126736700	126736700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:126736700G>A	ENST00000393409.2	+	18	3625	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1186K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1209	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCTGTGCGAGGCGCCCAA	0.662000													22	71					0	0	0.002780	0	0
FAM135B	51059	broad.mit.edu	37	8	139151251	139151251	+	Silent	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:139151251G>C	ENST00000395297.1	-	18	4049	c.3879C>G	c.(3877-3879)ctC>ctG	p.L1293L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1293										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)			TTAGTTGGTAGAGGAAACATT	0.448000										HNSCC(54;0.14)			12	127					0	0	0.013537	0	0
BIRC6	57448	broad.mit.edu	37	2	32728276	32728276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:32728276G>A	ENST00000421745.2	+	49	9606	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3158					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGACAATGCTGAAGGGATTCA	0.338000													7	17					0	0	0.004482	0	0
STIL	6491	broad.mit.edu	37	1	47717390	47717390	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:47717390G>A	ENST00000360380.3	-	18	3645	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	STIL_ENST00000337817.5_Silent_p.S1094S|STIL_ENST00000396221.2_Silent_p.S1077S|STIL_ENST00000243182.6_Silent_p.S1094S|STIL_ENST00000371877.3_Silent_p.S1095S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGGAGAAGGCTGAATGGGT	0.373000													69	42					0	0	0.014410	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139424	90139424	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:90139424C>A	ENST00000492446.1	+	0	222																											CAGAGAAAGCCCCTAAGTCCC	0.522000													103	218					3.52173e-36	5.78937e-36	0.014410	1	0
TCEANC2	127428	broad.mit.edu	37	1	54562036	54562036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:54562036C>T	ENST00000234827.1	+	5	717	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.R203W	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	173	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						GCCGTACCGGCGGACGGTGAG	0.512000													38	20					0	0	0.004878	0	0
BAAT	570	broad.mit.edu	37	9	104133542	104133542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:104133542G>A	ENST00000259407.2	-	2	253	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	BAAT_ENST00000395051.3_Missense_Mutation_p.H49Y	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	49					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCCCTATAGTGGGCTTGAGAA	0.488000													33	68					0	0	0.010818	0	0
ZNF521	25925	broad.mit.edu	37	18	22804737	22804737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:22804737C>A	ENST00000361524.3	-	4	3293	c.3145G>T	c.(3145-3147)Ggg>Tgg	p.G1049W	ZNF521_ENST00000584787.1_Missense_Mutation_p.G829W|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1049W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTGCAGACCCATTCCCTGTC	0.522000			T	PAX5	ALL								19	20					8.00594e-06	9.70504e-06	0.007413	1	0
NSMF	26012	broad.mit.edu	37	9	140346851	140346851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:140346851C>G	ENST00000371475.3	-	12	1433	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	NSMF_ENST00000541195.1_Missense_Mutation_p.G198A|NSMF_ENST00000265663.7_Missense_Mutation_p.G399A|NSMF_ENST00000392812.4_Missense_Mutation_p.G378A|NSMF_ENST00000371482.1_Missense_Mutation_p.G65A|NSMF_ENST00000437259.1_Missense_Mutation_p.G378A|NSMF_ENST00000371474.3_Missense_Mutation_p.G376A|NSMF_ENST00000371473.3_Missense_Mutation_p.G371A|NSMF_ENST00000339554.3_Missense_Mutation_p.G198A|NSMF_ENST00000371472.2_Missense_Mutation_p.G399A|NSMF_ENST00000484316.1_5'UTR	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		GATCTTGGCTCCCTTGTGGTA	0.617000													59	121					0	0	0.014410	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651373	15651373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:15651373C>T	ENST00000269703.2	+	8	983	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R262W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	262						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCGGATGGGCGGAGGTTCCG	0.607000													29	90					0	0	0.007291	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221511	10221511	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:10221511C>T	ENST00000428358.1	+	11	1342	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	PPAN_ENST00000393793.1_Silent_p.F337F|PPAN_ENST00000253107.7_Silent_p.F390F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F390F|PPAN_ENST00000556468.1_Silent_p.F390F	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		390					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCGAGTATTTCTGCCAGGCGG	0.607000													67	140					0	0	0.014410	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913203	143913203	+	Silent	SNP	T	T	C	rs146989390	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:143913203T>C	ENST00000409869.1	+	3	321	c.144T>C	c.(142-144)gaT>gaC	p.D48D	ARHGAP15_ENST00000295095.6_Silent_p.D48D			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCTCACCGATGTCGGGAAGG	0.423000													26	23					0	0	0.007291	0	0
CCDC132	55610	broad.mit.edu	37	7	92887685	92887685	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:92887685G>T	ENST00000544910.1	+	9	687	c.467G>T	c.(466-468)cGg>cTg	p.R156L	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.R186L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299000													20	52					3.5997e-14	4.99218e-14	0.014323	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140797510	140797510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140797510G>T	ENST00000398594.2	+	1	84	c.84G>T	c.(82-84)acG>acT	p.T28T	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACCCCACGCTGTGTGAGC	0.632000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					5.50884e-06	6.70209e-06	0.013537	1	0
CSMD3	114788	broad.mit.edu	37	8	113246662	113246662	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:113246662G>T	ENST00000297405.5	-	68	10916	c.10672C>A	c.(10672-10674)Ctt>Att	p.L3558I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3389I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3488I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3518I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3558						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						ACTTTAATAAGATATATGCGT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			50	95					1.4374e-25	2.23227e-25	0.014410	1	0
RYR2	6262	broad.mit.edu	37	1	237865319	237865319	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:237865319T>A	ENST00000366574.2	+	66	9726	c.9409T>A	c.(9409-9411)Tta>Ata	p.L3137I	RYR2_ENST00000360064.6_Missense_Mutation_p.L3135I|RYR2_ENST00000542537.1_Missense_Mutation_p.L3121I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGACTAGCTTATATGCTTT	0.328000													32	16					0	0	0.004289	0	0
MBTPS2	51360	broad.mit.edu	37	X	21869684	21869684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:21869684A>T	ENST00000365779.2	+	4	577	c.496A>T	c.(496-498)Att>Ttt	p.I166F	MBTPS2_ENST00000379484.5_Missense_Mutation_p.I166F|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	166					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGCAGTTCTCATTAGTGGTGT	0.373000													5	78					0	0	0.001168	0	0
NPY4R	5540	broad.mit.edu	37	10	47087602	47087602	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:47087602C>A	ENST00000374312.1	+	3	1238	c.819C>A	c.(817-819)gcC>gcA	p.A273A	NPY4R_ENST00000395716.1_Silent_p.A273A	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGGTGGTGGCCTTTGCTGTGC	0.587000													20	87					3.99206e-14	5.49112e-14	0.007413	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453000													56	102					6.4308e-24	9.8958e-24	0.014410	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	79					0	0	0.000602	0	0
HNF1A	6927	broad.mit.edu	37	12	121438953	121438953	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:121438953C>A	ENST00000257555.6	+	10	2080	c.1854C>A	c.(1852-1854)atC>atA	p.I618I	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Silent_p.I649I|HNF1A_ENST00000544413.1_Silent_p.I625I			P20823	HNF1A_HUMAN	HNF1 homeobox A	618			I -> M (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGCGTCATCGAGACCTTCA	0.617000									Hepatic Adenoma, Familial Clustering of				10	5					1.58986e-06	1.94831e-06	0.008291	1	0
DOCK3	1795	broad.mit.edu	37	3	51400017	51400017	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:51400017G>A	ENST00000266037.9	+	49	5228	c.5205G>A	c.(5203-5205)tcG>tcA	p.S1735S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTCCTCGTCCCAGGCAA	0.557000													32	18					0	0	0.010818	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751081	140751081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140751081C>A	ENST00000576222.1	+	1	1251	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_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)			AACACATGATCTAGATTCTGG	0.423000													7	24					0.00198382	0.00233758	0.001984	1	0
APC	324	broad.mit.edu	37	5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	rs149154604		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000508376.2_Missense_Mutation_p.R283Q|APC_ENST00000257430.4_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	31					0	0	0.008871	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476802	110476802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:110476802C>A	ENST00000378402.5	+	49	7845	c.7741C>A	c.(7741-7743)Cac>Aac	p.H2581N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2581					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTGGCACTCACTTTGGCTT	0.463000										HNSCC(38;0.096)			24	35					2.21704e-12	2.98856e-12	0.002780	1	0
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:7577557A>T	ENST00000420246.2	-	7	856	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		CCGCCCATGCAGGAACTGTTA	0.577000		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)			67	22					0	0	0.014410	0	0
LYZL6	57151	broad.mit.edu	37	17	34266465	34266465	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:34266465G>T	ENST00000585556.1	-	0	230				LYZL6_ENST00000293274.4_Intron|LYZL6_ENST00000394523.3_De_novo_Start_InFrame			O75951	LYZL6_HUMAN	lysozyme-like 6						cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGCAGCCAGGTTTCCTTAC	0.448000													8	23					0.00307968	0.00360365	0.003080	1	0
GAA	2548	broad.mit.edu	37	17	78081647	78081647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:78081647G>A	ENST00000302262.3	+	5	1126	c.907G>A	c.(907-909)Gac>Aac	p.D303N	GAA_ENST00000390015.3_Missense_Mutation_p.D303N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	303					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGCGCTGGAGGACGGCGGGTC	0.687000													3	25					0	0	0.004672	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	46					0	0	0.004672	0	0
IGLJ2	28832	broad.mit.edu	37	22	23241819	23241819	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:23241819C>A	ENST00000390322.2	+	0	159																											GCGGAGGGACCAAGCTGACCG	0.542000													39	45					6.1244e-12	8.1578e-12	0.007835	1	0
KRI1	65095	broad.mit.edu	37	19	10665770	10665770	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:10665770G>C	ENST00000312962.6	-	18	1811	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	KRI1_ENST00000361821.5_Missense_Mutation_p.R594G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	598										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tactcttctCGGCAGAGTGAC	0.592000													25	39					0	0	0.003330	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709388	31709388	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:31709388C>A	ENST00000382835.2	-	1	624	c.599G>T	c.(598-600)gGt>gTt	p.G200V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	200						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGAGAACCACCAGTAACACA	0.408000													14	29					0.000219431	0.000260382	0.002450	1	0
STK31	56164	broad.mit.edu	37	7	23871841	23871841	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:23871841C>T	ENST00000354639.3	+	24	3311	c.2847C>T	c.(2845-2847)ttC>ttT	p.F949F	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.F949F|STK31_ENST00000355870.3_Silent_p.F972F|STK31_ENST00000428484.1_Silent_p.F949F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	972	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353000													68	60					0	0	0.014410	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711512	155711512	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:155711512A>G	ENST00000295101.2	+	3	1670	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	398					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTACTACAAAACTACCATCT	0.388000													64	98					0	0	0.014410	0	0
KDM6A	7403	broad.mit.edu	37	X	44938390	44938390	+	Splice_Site	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:44938390G>C	ENST00000377967.4	+	20	2979		c.e20-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATTCATGAAGACCTGGGACT	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								11	1					0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13719184	13719184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:13719184G>T	ENST00000265104.4	-	72	12410	c.12306C>A	c.(12304-12306)tgC>tgA	p.C4102*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4102	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCCCAGATGGCAGTTCTGCA	0.418000									Kartagener syndrome				22	29					1.10513e-12	1.4957e-12	0.014323	1	0
SAFB2	9667	broad.mit.edu	37	19	5598876	5598876	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:5598876C>G	ENST00000252542.4	-	13	1974	c.1710G>C	c.(1708-1710)cgG>cgC	p.R570R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCACGACCGTCCGCTCCATTC	0.507000													26	48					0	0	0.008361	0	0
ABT1	29777	broad.mit.edu	37	6	26597372	26597372	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:26597372G>T	ENST00000274849.1	+	1	193	c.162G>T	c.(160-162)ccG>ccT	p.P54P		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	54	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCCATATCCCGCCGCGCTTCC	0.612000													16	28					2.32078e-09	2.98513e-09	0.003163	1	0
HAO1	54363	broad.mit.edu	37	20	7895010	7895010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr20:7895010C>T	ENST00000378789.3	-	3	397	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	116	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCACTTCTTCAATTGAGGAG	0.532000													14	36					0	0	0.001855	0	0
DUSP6	1848	broad.mit.edu	37	12	89745444	89745444	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:89745444C>T	ENST00000279488.7	-	1	1604	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E125K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	125	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						CGGCAGCCCTCGTCCTTGAGC	0.687000													6	2					0	0	0.001168	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626706	43626706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:43626706T>A	ENST00000332857.6	-	4	2009	c.1981A>T	c.(1981-1983)Agg>Tgg	p.R661W		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CACAGGTCCCTCTCTAGCTGG	0.562000													71	13					0	0	0.014410	0	0
FAM60A	58516	broad.mit.edu	37	12	31435799	31435799	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:31435799C>T	ENST00000337682.4	-	6	881	c.513G>A	c.(511-513)aaG>aaA	p.K171K	FAM60A_ENST00000539409.1_Silent_p.K23K|FAM60A_ENST00000395766.1_Silent_p.K23K|FAM60A_ENST00000542983.1_Silent_p.K23K|FAM60A_ENST00000454658.2_Silent_p.K171K	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	171										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CACAACATATCTTCTGTCTAA	0.353000													17	29					0	0	0.007413	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784798	140784798	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140784798C>A	ENST00000573521.1	+	1	2279	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCCTCACCGCTGACTCA	0.537000													44	83					1.48734e-19	2.2277e-19	0.013114	1	0
AGL	178	broad.mit.edu	37	1	100327061	100327061	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:100327061T>C	ENST00000294724.4	+	3	563	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	AGL_ENST00000370161.2_Missense_Mutation_p.Y13H|AGL_ENST00000370165.3_Missense_Mutation_p.Y29H|AGL_ENST00000361915.3_Missense_Mutation_p.Y29H|AGL_ENST00000370163.3_Missense_Mutation_p.Y29H|AGL_ENST00000361302.3_Missense_Mutation_p.Y13H|AGL_ENST00000361522.4_Missense_Mutation_p.Y12H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	29					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTATTTAGGGTATGAGCTACA	0.308000													12	9					0	0	0.013537	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65194605	65194605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:65194605C>T	ENST00000247226.7	+	2	564	c.256C>T	c.(256-258)Cct>Tct	p.P86S	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P86S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	86					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGGCAGGGCCTGCACACCA	0.637000													8	4					0	0	0.003080	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627413	140627413	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140627413C>A	ENST00000231173.3	+	1	2267	c.2267C>A	c.(2266-2268)aCg>aAg	p.T756K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		756					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGTCTGACGGGAGGCTCT	0.517000													71	120					4.98182e-18	7.29945e-18	0.014410	1	0
TECRL	253017	broad.mit.edu	37	4	65147243	65147243	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:65147243G>A	ENST00000381210.3	-	10	977	c.867C>T	c.(865-867)aaC>aaT	p.N289N	TECRL_ENST00000507440.1_Silent_p.N289N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	289					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGTGAAGGGGTTATAATTTG	0.328000													19	7					0	0	0.006122	0	0
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:33954863G>C	ENST00000389232.4	+	35	5202	c.5132G>C	c.(5131-5133)cGa>cCa	p.R1711P	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1711L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCCACATCCGAGACCCTGTA	0.562000													23	18					0	0	0.003330	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432909	73432909	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:73432909C>A	ENST00000263666.4	-	10	2922	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R653S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R593S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R658S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R593S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	936							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGCACGGGCCTCTTGGTGA	0.667000													19	13					3.99206e-14	5.49112e-14	0.007413	1	0
OR5M1	390168	broad.mit.edu	37	11	56380788	56380788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:56380788C>T	ENST00000526538.1	-	1	190	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGAGGTGGCCAAGGAAGAA	0.468000													44	80					0	0	0.011902	0	0
RABEP2	79874	broad.mit.edu	37	16	28917494	28917494	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:28917494G>A	ENST00000358201.4	-	9	1857	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	RABEP2_ENST00000544477.1_Silent_p.C352C|RABEP2_ENST00000357573.6_Silent_p.C391C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	423					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTTGCCGCGTGCAGCACAGCA	0.716000													7	10					0	0	0.004482	0	0
MUC3A	4584	broad.mit.edu	37	7	100551864	100551864	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:100551864C>G	ENST00000319509.7	+	1	615	c.615C>G	c.(613-615)ctC>ctG	p.L205L						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAACTTCACTCACATCTACAA	0.438000													56	515					0	0	0.014410	0	0
LRP5	4041	broad.mit.edu	37	11	68154175	68154175	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:68154175G>A	ENST00000294304.7	+	6	1513	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	469	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCCCGTGATGGGGTAAG	0.672000													13	27					0	0	0.003163	0	0
RELT	84957	broad.mit.edu	37	11	73101965	73101965	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:73101965G>T	ENST00000064780.2	+	4	547	c.287_splice	c.e4+1	p.G96_splice	RELT_ENST00000393580.2_Splice_Site_p.G96_splice	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	96						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CTGCTGGCCTGGGTAAGCCAA	0.632000													24	19					1.77063e-15	2.49666e-15	0.005443	1	0
METTL3	56339	broad.mit.edu	37	14	21969087	21969087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:21969087C>T	ENST00000298717.4	-	5	1235	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	362					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GCACTGGAATCACCTCCGACA	0.507000													12	8					0	0	0.001855	0	0
STK31	56164	broad.mit.edu	37	7	23827673	23827673	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:23827673A>G	ENST00000354639.3	+	21	2957	c.2493A>G	c.(2491-2493)tcA>tcG	p.S831S	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.S854S|STK31_ENST00000355870.3_Silent_p.S854S|STK31_ENST00000428484.1_Silent_p.S831S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	854	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCATGGATCACTTCATCAGA	0.353000													33	93					0	0	0.013726	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029194	41029194	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:41029194C>A	ENST00000244669.2	+	2	303	c.259C>A	c.(259-261)Cgg>Agg	p.R87R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	87					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGCATCTCGGGGATACCT	0.567000													36	82					4.34311e-12	5.80804e-12	0.003271	1	0
TNS1	7145	broad.mit.edu	37	2	218751275	218751275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:218751275T>A	ENST00000171887.4	-	11	1038	c.586A>T	c.(586-588)Aac>Tac	p.N196Y	TNS1_ENST00000430930.1_Missense_Mutation_p.N196Y|TNS1_ENST00000419504.1_Missense_Mutation_p.N196Y|TNS1_ENST00000310858.6_Missense_Mutation_p.N227Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	196	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTCAAAGTTGGGGATGCCG	0.522000											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	5					0	0	0.003163	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022564	161022564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:161022564G>A	ENST00000368013.3	-	7	1008	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.R53*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.R230*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	230					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGCGATCGCCACCCACTC	0.607000													27	39					0	0	0.006320	0	0
TRGV2	6974	broad.mit.edu	37	7	38402465	38402465	+	RNA	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:38402465C>A	ENST00000426402.2	-	0	543																											AATCACTGTGCCCGTCCCAGG	0.473000													31	27					6.00712e-18	8.76364e-18	0.012213	1	0
CYP21A1P	1590	broad.mit.edu	37	6	31975532	31975532	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:31975532C>T	ENST00000342991.6	+	0	1455					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GGACCGTGCACGGCTGCCCTT	0.657000													19	19					0	0	0.007413	0	0
CMTM1	113540	broad.mit.edu	37	16	66603837	66603837	+	Splice_Site	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:66603837A>T	ENST00000379500.2	+	2	499		c.e2-1		CMTM1_ENST00000328020.6_Splice_Site|CMTM1_ENST00000528324.1_Splice_Site|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Splice_Site|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTTTTATTGCAGAGTCTTATC	0.323000													31	57					0	0	0.009535	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													4	26					0	0	0.009096	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090459	91090459	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:91090459G>T	ENST00000395337.2	+	4	589		c.e4-1		PCDH11X_ENST00000373097.1_5'UTR|PCDH11X_ENST00000361724.1_5'UTR|PCDH11X_ENST00000373094.1_5'UTR	NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTTTGGTCAGTGTTGTGCGG	0.403000													38	11					1.96642e-18	2.89381e-18	0.006999	1	0
STK10	6793	broad.mit.edu	37	5	171488156	171488156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:171488156C>A	ENST00000176763.5	-	14	2542	c.2199G>T	c.(2197-2199)caG>caT	p.Q733H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	733							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGGAGCTCCTGCTTCTTCA	0.617000													71	140					9.12251e-31	1.45701e-30	0.014410	1	0
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:201468754C>G	ENST00000374700.2	+	8	844	c.603C>G	c.(601-603)ctC>ctG	p.L201L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	201					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383000													32	30					0	0	0.013726	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94791279	94791279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:94791279G>A	ENST00000289495.5	+	4	1966	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V584I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V584I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V584I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	584	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGCAACGTCAGGTAAAT	0.363000										HNSCC(28;0.073)			5	3					0	0	0.001168	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627262	21627262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:21627262C>G	ENST00000425654.2	+	19	2609	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S691C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S740C|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S740C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	740					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGTCTCAGTCTTCTCATGAG	0.517000													34	10					0	0	0.003271	0	0
PRSS37	136242	broad.mit.edu	37	7	141536336	141536336	+	Splice_Site	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:141536336C>A	ENST00000350549.3	-	5	939		c.e5-1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CGGCCACCTCCTACCGGAGAT	0.547000													12	4					6.40141e-05	7.70456e-05	0.010729	1	0
ZNF226	7769	broad.mit.edu	37	19	44680226	44680226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:44680226C>T	ENST00000590089.1	+	7	1178	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q271*|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q271*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TGATCTTCATCAGCAGTTACA	0.423000													23	42					0	0	0.012319	0	0
DOCK9	23348	broad.mit.edu	37	13	99452600	99452600	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:99452600G>A	ENST00000376460.1	-	53	5980	c.5900C>T	c.(5899-5901)tCg>tTg	p.S1967L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1954L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1968	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACCTCGGCCGAGGAGCACAG	0.612000													11	21					0	0	0.010729	0	0
BNC1	646	broad.mit.edu	37	15	83926817	83926817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:83926817C>T	ENST00000345382.2	-	5	2447	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E781K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	788					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAATGATCTTCACTACTCTCC	0.458000													36	63					0	0	0.005524	0	0
CDH9	1007	broad.mit.edu	37	5	26885803	26885803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:26885803G>T	ENST00000231021.4	-	11	1974	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	601	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCTTCTGCGGTGCAGGATTG	0.488000													6	20					5.9392e-07	7.33154e-07	0.001168	1	0
ERV3-1	2086	broad.mit.edu	37	7	64452342	64452342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:64452342C>A	ENST00000394323.2	-	2	1563	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		355						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cctactgggtctgtaaaggcc	0.433000													13	31					3.03607e-14	4.22792e-14	0.013537	1	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	33					0	0	0.009096	0	0
CEP72	55722	broad.mit.edu	37	5	637653	637653	+	Missense_Mutation	SNP	C	C	T	rs143077618		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:637653C>T	ENST00000264935.5	+	7	1016	c.926C>T	c.(925-927)tCg>tTg	p.S309L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	309					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ACCGAGGACTCGGCCTCTTCT	0.527000													28	50					0	0	0.007291	0	0
ANO5	203859	broad.mit.edu	37	11	22301128	22301128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:22301128G>T	ENST00000324559.8	+	22	2876	c.2559G>T	c.(2557-2559)atG>atT	p.M853I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	853						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						TGGCCTGGATGATACCTGATG	0.358000													17	37					0.00074312	0.000878707	0.006122	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098973	178098973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:178098973C>G	ENST00000397062.3	-	2	626	c.72G>C	c.(70-72)tgG>tgC	p.W24C	NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W24C(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TATCTTGCCTCCAAAGTATGT	0.348000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			19	20					0	0	0.006122	0	0
COL6A2	1292	broad.mit.edu	37	21	47552400	47552400	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:47552400C>A	ENST00000300527.4	+	28	3098	c.2994C>A	c.(2992-2994)caC>caA	p.H998Q		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	998	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGTGTTCCACGAGAAGGACT	0.677000													7	18					8.12818e-05	9.74804e-05	0.001984	1	0
ZNF776	284309	broad.mit.edu	37	19	58265188	58265188	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:58265188C>A	ENST00000317178.5	+	3	953	c.690C>A	c.(688-690)ctC>ctA	p.L230L		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGAGACTTCTCCCTAGAGAAG	0.418000													38	69					1.04594e-18	1.54597e-18	0.006230	1	0
OR6K2	81448	broad.mit.edu	37	1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	rs141159720	byFrequency	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403000													10	29					0	0	0.006214	0	0
DAB2	1601	broad.mit.edu	37	5	39376143	39376143	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:39376143C>G	ENST00000545653.1	-	12	2670	c.2140G>C	c.(2140-2142)Gag>Cag	p.E714Q	DAB2_ENST00000339788.6_Missense_Mutation_p.E517Q|DAB2_ENST00000509337.1_Missense_Mutation_p.E714Q|DAB2_ENST00000320816.6_Missense_Mutation_p.E735Q	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	735	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAAGGGTTCTCAAATGCATTG	0.418000													19	36					0	0	0.008871	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301763	139301763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:139301763G>A	ENST00000298537.7	-	4	795	c.584C>T	c.(583-585)cCg>cTg	p.P195L	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P145L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P218L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	218						cytoplasm		p.P218L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGCTCCGACGGGGTGGAGAA	0.657000													11	8					0	0	0.010729	0	0
HTR2A	3356	broad.mit.edu	37	13	47409480	47409480	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:47409480G>A	ENST00000378688.4	-	3	1039	c.908C>T	c.(907-909)cCa>cTa	p.P303L	HTR2A_ENST00000543956.1_Missense_Mutation_p.P219L|HTR2A_ENST00000542664.1_Missense_Mutation_p.P303L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	303					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.P303Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTAGGACCCTGGCTCCCTATG	0.517000													21	29					0	0	0.014323	0	0
MGAM	8972	broad.mit.edu	37	7	141755884	141755884	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:141755884A>C	ENST00000475668.2	+	29	3622	c.3568A>C	c.(3568-3570)Agc>Cgc	p.S1190R	MGAM_ENST00000549489.2_Missense_Mutation_p.S1190R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1190	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCTGAACAGCAATGCCAT	0.512000													8	3					0	0	0.003080	0	0
MMP13	4322	broad.mit.edu	37	11	102818711	102818711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:102818711C>G	ENST00000260302.3	-	8	1148	c.1120G>C	c.(1120-1122)Ggt>Cgt	p.G374R	MMP13_ENST00000340273.4_Missense_Mutation_p.G374R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	374	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTGGAAGACCCAGTTCAGAT	0.403000													21	13					0	0	0.008871	0	0
ATP2C1	27032	broad.mit.edu	37	3	130698095	130698095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:130698095C>T	ENST00000510168.1	+	19	2123	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	525					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCCTAAGTTCTTGCTTTGGC	0.373000									Hailey-Hailey disease				8	164					0	0	0.003080	0	0
MAMDC4	158056	broad.mit.edu	37	9	139754408	139754408	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:139754408G>A	ENST00000445819.1	+	28	3551	c.3501G>A	c.(3499-3501)gtG>gtA	p.V1167V	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.V1088V			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1167					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCTCCTGGTGCTGCTGGGAC	0.627000													24	29					0	0	0.003954	0	0
MORC1	27136	broad.mit.edu	37	3	108778707	108778707	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:108778707T>G	ENST00000232603.5	-	12	1059	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	MORC1_ENST00000483760.1_Missense_Mutation_p.Q326P	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	326					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGCTCTCTGTAATACATC	0.358000													7	51					0	0	0.003080	0	0
LRRK1	79705	broad.mit.edu	37	15	101567909	101567909	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:101567909G>T	ENST00000284395.5	+	20	2984	c.2584G>T	c.(2584-2586)Gac>Tac	p.D862Y	LRRK1_ENST00000388948.3_Missense_Mutation_p.D865Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	865					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCCGGGACGACGACGTGCA	0.662000													12	7					7.93312e-07	9.75716e-07	0.002450	1	0
MYH4	4622	broad.mit.edu	37	17	10351339	10351339	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:10351339G>A	ENST00000255381.2	-	34	4871	c.4761C>T	c.(4759-4761)ctC>ctT	p.L1587L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1587					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTGATCGAGTTCTTCAT	0.418000													6	155					0	0	0.003080	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													5	42					0	0	0.001168	0	0
MUC5B	727897	broad.mit.edu	37	11	1263788	1263788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:1263788C>A	ENST00000447027.1	+	31	5745	c.5687C>A	c.(5686-5688)tCc>tAc	p.S1896Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S1893Y|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1893	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAGCTCCACGGCCACG	0.612000													45	81					1.86633e-21	2.84595e-21	0.014410	1	0
ZNF560	147741	broad.mit.edu	37	19	9577562	9577562	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:9577562G>A	ENST00000301480.4	-	10	2274	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	687					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						TTCCACATGCGTTACATTCAG	0.373000													69	111					0	0	0.014410	0	0
SLC24A5	283652	broad.mit.edu	37	15	48434437	48434437	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:48434437C>T	ENST00000341459.3	+	9	1465	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	SLC24A5_ENST00000449382.2_Silent_p.D404D|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	464					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAACTAGACAGAAAGTTGG	0.343000													40	20					0	0	0.006999	0	0
ZNF716	441234	broad.mit.edu	37	7	57529071	57529071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:57529071G>T	ENST00000420713.1	+	4	1016	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGAAGAATGTGGCAAAGCCTT	0.418000													8	16					0.00307968	0.00360365	0.003080	1	0
GRM8	2918	broad.mit.edu	37	7	126544151	126544151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:126544151T>C	ENST00000339582.2	-	5	1701	c.893A>G	c.(892-894)aAc>aGc	p.N298S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N298S|GRM8_ENST00000358373.3_Missense_Mutation_p.N298S|GRM8_ENST00000444921.2_Missense_Mutation_p.N298S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	298					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCACTTTGGTTTAGTTTTTT	0.368000										HNSCC(24;0.065)			42	60					0	0	0.009718	0	0
DMD	1756	broad.mit.edu	37	X	32328320	32328320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:32328320G>A	ENST00000357033.4	-	42	6202	c.5996C>T	c.(5995-5997)aCt>aTt	p.T1999I	DMD_ENST00000378677.2_Missense_Mutation_p.T1995I	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	1999					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)				AGTCAAATAAGTAGAAGGCAC	0.393000													21	7					0	0	0.010504	0	0
GLUD1	2746	broad.mit.edu	37	10	88836358	88836358	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:88836358C>T	ENST00000277865.4	-	2	597	c.501G>A	c.(499-501)ctG>ctA	p.L167L	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L34L	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	167					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTATGTCATCAGAGAAGCCA	0.413000													25	36					0	0	0.004656	0	0
TIAM1	7074	broad.mit.edu	37	21	32554912	32554912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:32554912C>T	ENST00000286827.3	-	16	3184	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A845T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	905	PDZ.				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						GAGTTCAGGGCGTCAGCAGCA	0.498000													5	63					0	0	0.000602	0	0
AFF2	2334	broad.mit.edu	37	X	148072769	148072769	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:148072769G>T	ENST00000370460.2	+	21	4322	c.3843G>T	c.(3841-3843)atG>atT	p.M1281I	AFF2_ENST00000286437.5_Missense_Mutation_p.M922I|AFF2_ENST00000342251.3_Missense_Mutation_p.M1248I|AFF2_ENST00000370457.5_Missense_Mutation_p.M1246I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1281					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)					ACACGCTGATGGGGCCTCTGA	0.493000													62	18					2.02796e-37	3.35011e-37	0.014410	1	0
OR4A47	403253	broad.mit.edu	37	11	48511249	48511249	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:48511249G>T	ENST00000446524.1	+	1	981	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCTGGAGAAGAGACCTCATA	0.413000													28	50					1.77063e-15	2.49666e-15	0.005443	1	0
TTN	7273	broad.mit.edu	37	2	179596593	179596593	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:179596593C>G	ENST00000589042.1	-	58	17233	c.17009G>C	c.(17008-17010)tGg>tCg	p.W5670S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W4426S|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.W5353S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5353	Ig-like 37.						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)			ATCTTTGAACCAAGTGATCTC	0.428000													37	139					0	0	0.004289	0	0
P2RY2	5029	broad.mit.edu	37	11	72946311	72946311	+	Missense_Mutation	SNP	C	C	G	rs145119561	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:72946311C>G	ENST00000311131.2	+	3	1574	c.1107C>G	c.(1105-1107)agC>agG	p.S369R	P2RY2_ENST00000393597.2_Missense_Mutation_p.S369R|P2RY2_ENST00000393596.2_Missense_Mutation_p.S369R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGCTGGTAGCGAGAACACTA	0.552000													47	35					0	0	0.014410	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29888756	29888756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:29888756A>T	ENST00000308713.5	-	11	2272	c.1745T>A	c.(1744-1746)cTg>cAg	p.L582Q	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L538Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L512Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L468Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	582	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCGTCGAACAGCGTCAGCAT	0.692000													10	26					0	0	0.010729	0	0
OR5T3	390154	broad.mit.edu	37	11	56019812	56019812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:56019812G>C	ENST00000303059.3	+	1	137	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373000													41	67					0	0	0.013114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451290	110451290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:110451290G>A	ENST00000378402.5	+	32	4029	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1309	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATCTATGTAGAAGTCAGAAA	0.398000										HNSCC(38;0.096)			64	106					0	0	0.014410	0	0
KCNN2	3781	broad.mit.edu	37	5	113831815	113831815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:113831815G>T	ENST00000512097.3	+	9	2694	c.1676G>T	c.(1675-1677)cGg>cTg	p.R559L	KCNN2_ENST00000503706.1_Missense_Mutation_p.R211L|KCNN2_ENST00000264773.3_Missense_Mutation_p.R559L|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	559						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GAGCGGTCCCGGTCCTCGTCC	0.512000													31	74					2.08457e-15	2.92708e-15	0.010818	1	0
SLC15A1	6564	broad.mit.edu	37	13	99364806	99364806	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:99364806A>G	ENST00000376503.5	-	10	811	c.756T>C	c.(754-756)agT>agC	p.S252S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	252					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GAAATGCCTTACTCCGATGCC	0.433000													37	92					0	0	0.007835	0	0
VKORC1	79001	broad.mit.edu	37	16	31105904	31105904	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:31105904G>A	ENST00000319788.7	-	1	357	c.147C>T	c.(145-147)atC>atT	p.I49I	RP11-196G11.1_ENST00000529564.1_Silent_p.I49I|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Silent_p.I49I|VKORC1_ENST00000354895.4_Silent_p.I49I|VKORC1_ENST00000300851.6_Silent_p.I49I			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	49					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCGAACAGCTGATGGCGGTGC	0.682000													12	11					0	0	0.013537	0	0
OR4C46	119749	broad.mit.edu	37	11	51515722	51515722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:51515722G>T	ENST00000328188.1	+	1	441	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGTGGTGTGGATGGGAGGCT	0.463000													75	119					1.15098e-32	1.8648e-32	0.014410	1	0
MAGI3	260425	broad.mit.edu	37	1	114216018	114216018	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:114216018G>A	ENST00000369615.1	+	19	3182	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	MAGI3_ENST00000307546.9_Silent_p.E1040E|MAGI3_ENST00000369617.4_Silent_p.E1065E|MAGI3_ENST00000369611.4_Silent_p.E1040E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1065					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)		GGGGGAAGGAGTACAACATGG	0.488000													64	39					0	0	0.014410	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509618	171509618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:171509618G>T	ENST00000367742.3	+	16	3255	c.3013G>T	c.(3013-3015)Gaa>Taa	p.E1005*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1005*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1003*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1003*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1003							protein C-terminus binding										TAACAGAAGGGAAGAAGTTAA	0.413000													17	16					1.02788e-11	1.36377e-11	0.004990	1	0
MYO7A	4647	broad.mit.edu	37	11	76916513	76916513	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:76916513C>T	ENST00000409709.3	+	40	5759	c.5487C>T	c.(5485-5487)agC>agT	p.S1829S	MYO7A_ENST00000409619.2_Silent_p.S1780S|MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000458637.2_Silent_p.S1791S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1829	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGGTACAGCGAGGAGCGGG	0.677000													5	0					0	0	0.000602	0	0
PRELP	5549	broad.mit.edu	37	1	203452824	203452824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:203452824G>A	ENST00000343110.2	+	2	639	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	171					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGCCCCGGAACCTGGAG	0.597000													5	149					0	0	0.001984	0	0
THEMIS	387357	broad.mit.edu	37	6	128222065	128222065	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:128222065G>T	ENST00000368250.1	-	0	274				THEMIS_ENST00000368248.2_Missense_Mutation_p.L5M|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.L5M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AATTCTTCCAGTGATAATGCC	0.498000													51	69					9.57592e-29	1.51506e-28	0.014410	1	0
PRRX1	5396	broad.mit.edu	37	1	170688866	170688866	+	Splice_Site	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:170688866G>C	ENST00000239461.6	+	2	554		c.e2-1		PRRX1_ENST00000497230.2_Splice_Site|PRRX1_ENST00000367760.3_Splice_Site	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCTATTCCAGATGACCAGCT	0.408000													14	19					0	0	0.003163	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24980081	24980081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:24980081C>A	ENST00000289968.6	-	5	354	c.285G>T	c.(283-285)gaG>gaT	p.E95D	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E95D|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E95D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	95	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTCCACACGTCTCCAGCATCT	0.507000													27	38					2.41591e-17	3.49426e-17	0.004656	1	0
MYO18B	84700	broad.mit.edu	37	22	26242187	26242187	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:26242187C>A	ENST00000335473.7	+	19	3739	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T	MYO18B_ENST00000536101.1_Silent_p.T1163T|MYO18B_ENST00000407587.2_Silent_p.T1164T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAGGACCTTTGCCAGCA	0.672000													27	36					1.04121e-07	1.30929e-07	0.005443	1	0
PCDH10	57575	broad.mit.edu	37	4	134072226	134072226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:134072226G>C	ENST00000264360.4	+	1	1757	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	311	Cadherin 3.				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)		TGGCAGACTGGAGGTAAGCGG	0.632000													37	23					0	0	0.003271	0	0
OR1N2	138882	broad.mit.edu	37	9	125315511	125315511	+	Silent	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:125315511G>C	ENST00000373688.2	+	1	121	c.63G>C	c.(61-63)gtG>gtC	p.V21V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGGCAGAGTGAACCAAACCA	0.448000													39	59					0	0	0.004289	0	0
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:88763681G>C	ENST00000237201.1	+	2	343	c.226G>C	c.(226-228)Gtc>Ctc	p.V76L		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348000													8	20					0	0	0.008291	0	0
RSRC1	51319	broad.mit.edu	37	3	157920993	157920993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:157920993G>C	ENST00000295930.3	+	4	615	c.453G>C	c.(451-453)aaG>aaC	p.K151N	RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.K151N|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.K151N|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	151				EK -> GE (in Ref. 3; AAF64267).	nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaaaggagaaggataaaggga	0.448000													9	25					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9000496	9000496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:9000496C>A	ENST00000397910.4	-	54	40691	c.40488G>T	c.(40486-40488)atG>atT	p.M13496I	MUC16_ENST00000380951.5_Missense_Mutation_p.M137I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13498	SEA 10.				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						CAGGGTGATGCATGTTCTCCT	0.478000													33	66					9.65021e-13	1.31134e-12	0.010818	1	0
KIAA1217	56243	broad.mit.edu	37	10	24727394	24727394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:24727394A>G	ENST00000376454.3	+	5	862	c.832A>G	c.(832-834)Aat>Gat	p.N278D	KIAA1217_ENST00000376452.3_Missense_Mutation_p.N278D|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N199D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N198D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N278D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	278					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAACTATGAATGGAGACAT	0.403000													43	56					0	0	0.008740	0	0
ZHX2	22882	broad.mit.edu	37	8	123965602	123965602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:123965602T>C	ENST00000314393.4	+	3	2687	c.1852T>C	c.(1852-1854)Tcc>Ccc	p.S618P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	618						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACCAGCTCTCCGGTGCCCA	0.532000													25	52					0	0	0.003954	0	0
RECQL5	9400	broad.mit.edu	37	17	73657115	73657115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:73657115C>G	ENST00000420326.2	-	6	1065	c.906G>C	c.(904-906)caG>caC	p.Q302H	RECQL5_ENST00000423245.2_Missense_Mutation_p.Q275H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Q302H|RECQL5_ENST00000317905.5_Missense_Mutation_p.Q302H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Q302H	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	302	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAGTCGTTCTGCACCAGCG	0.512000								Other identified genes with known or suspected DNA repair function					14	110					0	0	0.001855	0	0
OR2T3	343173	broad.mit.edu	37	1	248637239	248637239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:248637239C>G	ENST00000359594.2	+	1	613	c.588C>G	c.(586-588)gaC>gaG	p.D196E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCTGACGTCTCCCTCT	0.522000													107	273					0	0	0.014410	0	0
LEPR	3953	broad.mit.edu	37	1	66081724	66081724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:66081724C>T	ENST00000349533.6	+	15	2214	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.Q677*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.Q677*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.Q677*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	677	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCAGTGTTCAGAGATATGT	0.393000													15	15					0	0	0.004007	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274094	10274094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:10274094G>T	ENST00000396573.2	-	3	484	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q59K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q59K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q59K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q59K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	59					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGCCGCCTGCTCGGGGCCC	0.657000													44	77					1.8453e-21	2.82666e-21	0.010771	1	0
DUSP12	11266	broad.mit.edu	37	1	161719654	161719654	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:161719654C>T	ENST00000367943.4	+	1	95	c.63C>T	c.(61-63)gtC>gtT	p.V21V	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	21					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCAGCAGAGTCAGCTGTGCCG	0.672000													4	16					0	0	0.009096	0	0
PSKH2	85481	broad.mit.edu	37	8	87060915	87060915	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:87060915C>G	ENST00000276616.2	-	3	1008	c.934G>C	c.(934-936)Ggc>Cgc	p.G312R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	312	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGGCCTGGCCAGCTGACATG	0.512000													36	49					0	0	0.004289	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621229	13621229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:13621229C>T	ENST00000361205.4	+	5	963	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R99C	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.R99C(2)|p.R62C(1)									CTTCATCAACCGCCCGAACCA	0.637000													102	29					0	0	0.014410	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142291	71142291	+	Splice_Site	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:71142291G>T	ENST00000333538.5	+	9	2134	c.1500_splice	c.e9+1	p.Q500_splice	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	500	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGACCACAGGTAGGAGCTC	0.537000													61	111					1.03172e-35	1.68782e-35	0.014410	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	56					0	0	0.001984	0	0
DDI2	84301	broad.mit.edu	37	1	15956910	15956910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:15956910C>T	ENST00000480945.1	+	3	530	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	120					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGTCCCACTCATCTCCTGGA	0.542000													33	15					0	0	0.010818	0	0
CACNA1E	777	broad.mit.edu	37	1	181680164	181680164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:181680164A>G	ENST00000526775.1	+	8	1295	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E377G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E328G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E377G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E377G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	377	Binding to the beta subunit (By similarity).				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						CAGCAGATTGAGCGTGAGCTG	0.577000													39	98					0	0	0.007835	0	0
CD226	10666	broad.mit.edu	37	18	67614187	67614187	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:67614187G>A	ENST00000280200.4	-	3	433	c.165C>T	c.(163-165)acC>acT	p.T55T	CD226_ENST00000582621.1_Silent_p.T55T|CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	55	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCCTGCTGGGTCCCGATCT	0.463000													21	15					0	0	0.012319	0	0
TRRAP	8295	broad.mit.edu	37	7	98581764	98581764	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:98581764A>G	ENST00000359863.4	+	60	9292	c.9083A>G	c.(9082-9084)aAt>aGt	p.N3028S	TRRAP_ENST00000355540.3_Missense_Mutation_p.N2999S|TRRAP_ENST00000446306.3_Missense_Mutation_p.N2999S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3028	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGTTCAAATAACGCTATG	0.448000													43	62					0	0	0.006999	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716928	170716928	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:170716928G>T	ENST00000314251.3	-	9	1175	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.R247S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	366					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAGAGAGAACGTCGCCCTGCC	0.398000													39	107					2.54651e-27	3.9915e-27	0.006999	1	0
KIDINS220	57498	broad.mit.edu	37	2	8936972	8936972	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:8936972T>C	ENST00000256707.3	-	11	1208	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	KIDINS220_ENST00000319688.5_Missense_Mutation_p.T344A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T343A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T301A|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T343A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	343					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCATCTTGGTAGCCTTTATA	0.418000													64	121					0	0	0.014410	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601217	138601217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:138601217G>A	ENST00000251691.4	+	14	2543	c.2377G>A	c.(2377-2379)Gtg>Atg	p.V793M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	793	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTACCATCAGGTGCTCGACAG	0.552000													28	29					0	0	0.006320	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216179	20216179	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:20216179T>A	ENST00000331723.1	+	1	593	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTAGAGGTGCTGGTGATA	0.493000													25	36					0	0	0.002780	0	0
CCDC150	284992	broad.mit.edu	37	2	197538986	197538986	+	Missense_Mutation	SNP	A	A	G	rs36060491		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:197538986A>G	ENST00000389175.4	+	10	1186	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	CCDC150_ENST00000272831.7_Missense_Mutation_p.K19E|CCDC150_ENST00000423093.2_Missense_Mutation_p.K19E|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	351										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAATTGACTAAAAAGTGTTC	0.343000													7	9					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179465721	179465721	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:179465721C>A	ENST00000589042.1	-	288	56134	c.55910G>T	c.(55909-55911)cGt>cTt	p.R18637L	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697L|TTN_ENST00000342992.6_Missense_Mutation_p.R16069L|TTN_ENST00000342175.6_Missense_Mutation_p.R9764L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16996L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 35.						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)			TTCCACATCACGCTTATTGCA	0.488000													138	102					2.82259e-58	4.68578e-58	0.014410	1	0
OGDHL	55753	broad.mit.edu	37	10	50945898	50945898	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:50945898T>A	ENST00000374103.4	-	20	2609	c.2524A>T	c.(2524-2526)Atc>Ttc	p.I842F	OGDHL_ENST00000432695.1_Missense_Mutation_p.I633F|OGDHL_ENST00000419399.1_Missense_Mutation_p.I785F|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	842					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTGTGAAGATAATCAGCTGG	0.617000													33	50					0	0	0.010818	0	0
WNT8B	7479	broad.mit.edu	37	10	102241771	102241771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:102241771G>A	ENST00000343737.5	+	5	598	c.470G>A	c.(469-471)cGg>cAg	p.R157Q		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	157					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAGGATGCACGGGCAGCCATG	0.592000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	48					0	0	0.004656	0	0
PKD2L1	9033	broad.mit.edu	37	10	102050202	102050202	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:102050202C>A	ENST00000318222.3	-	13	2464	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E619D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E694D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	694					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCTGGCAGCCTCTGGACCCG	0.527000													8	23					0.000157383	0.000187414	0.003080	1	0
RFX5	5993	broad.mit.edu	37	1	151315026	151315026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:151315026G>C	ENST00000290524.4	-	11	1665	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*	RFX5_ENST00000452671.2_Nonsense_Mutation_p.S496*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.S456*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S496*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	496						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAACCTTGAGGACTGGGC	0.577000													83	194					0	0	0.014410	0	0
FBXL7	23194	broad.mit.edu	37	5	15616151	15616151	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:15616151A>G	ENST00000504595.1	+	2	578	c.97A>G	c.(97-99)Aaa>Gaa	p.K33E	FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Missense_Mutation_p.K21E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	33					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACGCCCACTAAAGCCCAGAA	0.453000													10	25					0	0	0.013537	0	0
FMN2	56776	broad.mit.edu	37	1	240370643	240370643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:240370643C>T	ENST00000319653.9	+	5	2761	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562000													73	68					0	0	0.014410	0	0
TBX3	6926	broad.mit.edu	37	12	115109999	115109999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:115109999G>A	ENST00000349155.2	-	7	2782	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	TBX3_ENST00000257566.3_Missense_Mutation_p.P627S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	627	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGAGGAAGGGGTGGCGGTGC	0.682000													3	2					0	0	0.004672	0	0
PBX2	5089	broad.mit.edu	37	6	32154610	32154610	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:32154610C>T	ENST00000375050.4	-	7	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	365							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATAGGAATCTCCGTTGAGC	0.512000													30	55					0	0	0.012213	0	0
OR4X2	119764	broad.mit.edu	37	11	48267430	48267430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:48267430A>G	ENST00000302329.3	+	1	823	c.775A>G	c.(775-777)Ata>Gta	p.I259V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CACTCTGCCCATAGACAAGAT	0.512000													26	32					0	0	0.003330	0	0
COL19A1	1310	broad.mit.edu	37	6	70856592	70856592	+	Silent	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:70856592A>T	ENST00000322773.4	+	26	1914	c.1812A>T	c.(1810-1812)ccA>ccT	p.P604P	COL19A1_ENST00000393344.1_Silent_p.P226P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	604	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACGTGGGCCAAAGGTATACA	0.323000													5	11					0	0	0.001168	0	0
CDH17	1015	broad.mit.edu	37	8	95174380	95174380	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:95174380G>T	ENST00000027335.3	-	11	1417	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	CDH17_ENST00000441892.2_Silent_p.T217T|CDH17_ENST00000450165.2_Silent_p.T431T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	431	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAAAACAAAGGGTCTTGAAAT	0.313000													13	30					6.72482e-11	8.81815e-11	0.003163	1	0
OR5P2	120065	broad.mit.edu	37	11	7818034	7818034	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:7818034A>G	ENST00000329434.2	-	1	486	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGGAGACAGCAATGAGAA	0.388000													31	44					0	0	0.010818	0	0
LRP4	4038	broad.mit.edu	37	11	46908046	46908046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:46908046T>C	ENST00000378623.1	-	17	2496	c.2254A>G	c.(2254-2256)Atc>Gtc	p.I752V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	752					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCGACGGATGTCCATCCTT	0.517000													25	34					0	0	0.006320	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847532	88847532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:88847532G>T	ENST00000333190.4	+	2	781	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTTACTGTGAATTATGTGA	0.368000										HNSCC(36;0.09)			26	29					1.1804e-14	1.6506e-14	0.003954	1	0
ANKRD50	57182	broad.mit.edu	37	4	125600031	125600031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:125600031T>G	ENST00000504087.1	-	3	1579	c.542A>C	c.(541-543)aAg>aCg	p.K181T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K2T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	181										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGGGGAGGCTTCATTCCCAG	0.398000													3	99					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139165165	139165165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:139165165C>A	ENST00000395297.1	-	13	1723	c.1553G>T	c.(1552-1554)tGt>tTt	p.C518F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	518								p.C518F(2)		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)			GCCAGTCCAACATTCATCTTC	0.463000										HNSCC(54;0.14)			41	165					2.24893e-16	3.2114e-16	0.009718	1	0
FAM188A	80013	broad.mit.edu	37	10	15828592	15828592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:15828592C>A	ENST00000378036.1	-	4	1375	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C	FAM188A_ENST00000277632.3_Missense_Mutation_p.G362C|FAM188A_ENST00000477891.1_5'UTR			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	362					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGAAATGGGCCCAATAATATG	0.338000													38	77					6.97489e-18	1.01316e-17	0.004878	1	0
SCN3A	6328	broad.mit.edu	37	2	165986510	165986510	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:165986510G>T	ENST00000360093.3	-	17	3353	c.2862C>A	c.(2860-2862)gtC>gtA	p.V954V	SCN3A_ENST00000409101.3_Silent_p.V905V|SCN3A_ENST00000283254.7_Silent_p.V954V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	954						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTGGCCAGCGACCTCCATAC	0.468000													188	143					3.0798e-103	5.16365e-103	0.014410	1	0
CDK8	1024	broad.mit.edu	37	13	26911771	26911771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr13:26911771G>C	ENST00000381527.3	+	2	699	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CDK8_ENST00000536792.1_Missense_Mutation_p.E66Q	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	66	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGCATGTAGAGAAATAGCAGT	0.294000													30	51					0	0	0.003755	0	0
ZNF878	729747	broad.mit.edu	37	19	12155285	12155285	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:12155285A>G	ENST00000602107.1	-	5	1071	c.1072T>C	c.(1072-1074)Tat>Cat	p.Y358H	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.Y311H|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTACACTCATAGGGTTTCTCT	0.403000													33	74					0	0	0.012213	0	0
DRP2	1821	broad.mit.edu	37	X	100494001	100494001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:100494001C>T	ENST00000395209.3	+	6	997	c.470C>T	c.(469-471)cCc>cTc	p.P157L	DRP2_ENST00000402866.1_Missense_Mutation_p.P157L|DRP2_ENST00000541709.1_Missense_Mutation_p.P79L|DRP2_ENST00000538510.1_Missense_Mutation_p.P157L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	157					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTCGGGGCCCCTACATCTAT	0.463000													58	16					0	0	0.014410	0	0
KIF26B	55083	broad.mit.edu	37	1	245849620	245849620	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:245849620G>T	ENST00000366518.4	+	9	2296	c.2192G>T	c.(2191-2193)gGc>gTc	p.G731V	KIF26B_ENST00000407071.2_Missense_Mutation_p.G1112V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGATTCCGGCGTGGCGTCT	0.612000													56	125					3.31993e-32	5.35318e-32	0.014410	1	0
HSF2BP	11077	broad.mit.edu	37	21	45076541	45076541	+	Silent	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:45076541T>A	ENST00000291560.2	-	3	445	c.114A>T	c.(112-114)atA>atT	p.I38I	HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	38					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGAAGTCCCGTATTTGCATCA	0.393000													39	51					0	0	0.006999	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994844	143994844	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:143994844C>A	ENST00000323110.2	-	6	980	c.978G>T	c.(976-978)acG>acT	p.T326T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	326					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCAAAGAGCGTCATCAGCA	0.622000									Familial Hyperaldosteronism type I				27	151					3.73148e-12	5.00999e-12	0.007291	1	0
UNC13A	23025	broad.mit.edu	37	19	17728564	17728564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:17728564G>A	ENST00000428389.2	-	42	4768	c.4769C>T	c.(4768-4770)aCg>aTg	p.T1590M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607000													50	72					0	0	0.014410	0	0
HDHD1	8226	broad.mit.edu	37	X	7023726	7023726	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:7023726T>C	ENST00000381077.5	-	2	291	c.215A>G	c.(214-216)gAg>gGg	p.E72G	HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.E72G|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.E95G	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	72					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						CACCAGCTCCTCTTTGGACAT	0.502000													16	0					0	0	0.004007	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856854	19856854	+	RNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr14:19856854C>G	ENST00000548109.1	+	0	72																											CTCATGTCATCTACAGCACTC	0.343000													7	40					0	0	0.004482	0	0
PCDH15	65217	broad.mit.edu	37	10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr10:56106133C>A	ENST00000373965.2	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D196Y(2)|p.D201Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGATCATCTGGATTATAC	0.308000										HNSCC(58;0.16)			26	59					1.66031e-10	2.16869e-10	0.003954	1	0
CLCNKB	1188	broad.mit.edu	37	1	16380200	16380200	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:16380200A>G	ENST00000375679.4	+	16	1800	c.1689A>G	c.(1687-1689)ccA>ccG	p.P563P	CLCNKB_ENST00000375667.3_Silent_p.P394P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		AGGACATGCCACTGGAGGAGG	0.632000													15	15					0	0	0.008871	0	0
OR2T3	343173	broad.mit.edu	37	1	248637225	248637225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:248637225C>T	ENST00000359594.2	+	1	599	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGAAGCTCTCCTGCTC	0.517000													192	155					0	0	0.014410	0	0
FUK	197258	broad.mit.edu	37	16	70499039	70499039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:70499039C>T	ENST00000288078.6	+	4	477	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	82						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGTCACATCCGATGTCCTG	0.572000													11	14					0	0	0.001855	0	0
ST5	6764	broad.mit.edu	37	11	8737301	8737301	+	Missense_Mutation	SNP	C	C	T	rs144868309		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:8737301C>T	ENST00000534127.1	-	9	2079	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	ST5_ENST00000526757.1_Missense_Mutation_p.R145Q|ST5_ENST00000357665.1_Missense_Mutation_p.R565Q|ST5_ENST00000526099.1_Missense_Mutation_p.R78Q|ST5_ENST00000530438.1_Missense_Mutation_p.R145Q|ST5_ENST00000313726.6_Missense_Mutation_p.R565Q|ST5_ENST00000530991.1_Missense_Mutation_p.R37Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	565					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCGTGGCAGCCGGTGGCTCTT	0.617000													41	80					0	0	0.011902	0	0
NPY5R	4889	broad.mit.edu	37	4	164272687	164272687	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:164272687A>G	ENST00000515560.1	+	4	2784	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	NPY5R_ENST00000506953.1_Missense_Mutation_p.N421S|NPY5R_ENST00000338566.3_Missense_Mutation_p.N421S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328000													45	20					0	0	0.014410	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800246	74800246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:74800246C>G	ENST00000305159.3	-	1	553	c.513G>C	c.(511-513)atG>atC	p.M171I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTTATATGCCATCTGGGAGG	0.572000													25	9					0	0	0.003954	0	0
OR2T1	26696	broad.mit.edu	37	1	248569514	248569514	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:248569514C>A	ENST00000366474.1	+	1	219	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGGAAACCTCAGGTCTTA	0.423000													83	73					1.20873e-29	1.92143e-29	0.014410	1	0
COX10	1352	broad.mit.edu	37	17	13977709	13977709	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:13977709A>G	ENST00000261643.3	+	2	190	c.113A>G	c.(112-114)cAt>cGt	p.H38R	COX10_ENST00000429152.2_Missense_Mutation_p.H38R|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	38					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AAGTTCTTACATCTTCTCAGG	0.403000													63	95					0	0	0.014410	0	0
MITD1	129531	broad.mit.edu	37	2	99797327	99797327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:99797327C>T	ENST00000289359.2	-	1	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	40	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TCAATCCCCTCTTGGTAACAC	0.582000													65	104					0	0	0.014410	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253706	32253706	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:32253706G>T	ENST00000332378.4	-	1	168	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	46						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGCCAGTCTGGAAGGAACTGG	0.582000													24	39					6.21321e-17	8.91001e-17	0.002780	1	0
SNHG14	104472715	broad.mit.edu	37	15	25438354	25438354	+	RNA	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:25438354C>G	ENST00000424208.1	+	0	1213				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GTGCTGAGCCCCTGGTGCACT	0.597000													46	16					0	0	0.009718	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913079	143913079	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:143913079C>G	ENST00000409869.1	+	3	197	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.S7C			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	7					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTACAAATTCTGATACTTCC	0.373000													11	18					0	0	0.008291	0	0
OR5H1	26341	broad.mit.edu	37	3	97852283	97852283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:97852283G>T	ENST00000354565.2	+	1	742	c.742G>T	c.(742-744)Gtc>Ttc	p.V248F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TCTCTTCTCTGTCTCTTTATA	0.413000													45	160					3.7052e-28	5.83483e-28	0.013114	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276680	185276680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:185276680G>C	ENST00000367498.3	-	6	1094	c.472C>G	c.(472-474)Cag>Gag	p.Q158E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	158	BACK.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAATGCTCCTGAATATAAGCA	0.363000													25	70					0	0	0.004656	0	0
APOB	338	broad.mit.edu	37	2	21228818	21228818	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:21228818G>T	ENST00000233242.1	-	26	11049	c.10922C>A	c.(10921-10923)tCt>tAt	p.S3641Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAAGACCCAGAATGAATCCG	0.463000													14	26					1.5842e-08	2.01462e-08	0.001855	1	0
CPQ	10404	broad.mit.edu	37	8	97978226	97978226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:97978226G>A	ENST00000220763.5	+	5	1123	c.913G>A	c.(913-915)Ggt>Agt	p.G305S		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	305					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGATGATGGCGGTGGAGCCTT	0.378000													3	56					0	0	0.000602	0	0
C1orf173	127254	broad.mit.edu	37	1	75037100	75037100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:75037100C>A	ENST00000326665.5	-	14	4512	c.4294G>T	c.(4294-4296)Ggc>Tgc	p.G1432C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1432	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTGGAGTGCCCACCCCAGCC	0.612000													58	33					2.43698e-19	3.6339e-19	0.014410	1	0
IARS	3376	broad.mit.edu	37	9	95009669	95009669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:95009669G>T	ENST00000375643.3	-	26	3047	c.2781C>A	c.(2779-2781)ttC>ttA	p.F927L	IARS_ENST00000443024.2_Missense_Mutation_p.F927L|IARS_ENST00000447699.2_Missense_Mutation_p.F817L|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	927					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGTCTTCTGGAACTGCTCCA	0.483000													24	53					2.24059e-21	3.40126e-21	0.006320	1	0
ACY3	91703	broad.mit.edu	37	11	67410230	67410230	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:67410230G>T	ENST00000255082.3	-	8	1095	c.925C>A	c.(925-927)Ccc>Acc	p.P309T	ACY3_ENST00000529256.1_Missense_Mutation_p.P188T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GTCAGCGCGGGCATGGCAGGC	0.587000													45	98					4.78724e-31	7.68238e-31	0.014410	1	0
RIMS2	9699	broad.mit.edu	37	8	105235910	105235910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:105235910G>T	ENST00000339750.2	+	1	31	c.31G>T	c.(31-33)Gct>Tct	p.A11S	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1247					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTGCCAGCGCTGCGGGGCG	0.687000										HNSCC(12;0.0054)			8	16					1.12685e-05	1.36111e-05	0.004482	1	0
DCHS1	8642	broad.mit.edu	37	11	6643935	6643935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:6643935C>T	ENST00000299441.3	-	21	9383	c.8972G>A	c.(8971-8973)cGg>cAg	p.R2991Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2991					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)		AGGTGGCTCCCGGCCCAGTTT	0.642000													5	5					0	0	0.000602	0	0
HECTD4	283450	broad.mit.edu	37	12	112622228	112622228	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:112622228G>A	ENST00000550722.1	-	61	10499	c.10104C>T	c.(10102-10104)gcC>gcT	p.A3368A	HECTD4_ENST00000430131.2_Silent_p.A3092A|HECTD4_ENST00000377560.5_Silent_p.A3342A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTCGAGGCCGGCAGGCAGCG	0.677000													11	1					0	0	0.008291	0	0
DYRK1B	9149	broad.mit.edu	37	19	40321360	40321360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:40321360C>T	ENST00000593685.1	-	3	595	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DYRK1B_ENST00000597639.1_Missense_Mutation_p.A43T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A43T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A43T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A43T|DYRK1B_ENST00000601972.1_Missense_Mutation_p.A43T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	43					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGCGGGGCTGAGGTTGCA	0.642000													30	42					0	0	0.007291	0	0
TRIM39	56658	broad.mit.edu	37	6	30297275	30297275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:30297275G>A	ENST00000376659.5	+	3	779	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TRIM39_ENST00000376656.4_Missense_Mutation_p.E61K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E61K	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542000													48	83					0	0	0.014410	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529897	80529897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:80529897C>A	ENST00000295057.3	-	2	1704	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	LRRTM1_ENST00000409148.1_Missense_Mutation_p.G350C|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	350	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACGTCCTCGCCCTGTGCGTAC	0.672000										HNSCC(69;0.2)			14	20					1.5842e-08	2.01462e-08	0.001855	1	0
GALNTL5	168391	broad.mit.edu	37	7	151699803	151699803	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:151699803T>A	ENST00000392800.2	+	6	917	c.663T>A	c.(661-663)gaT>gaA	p.D221E	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.D221E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCCCAGGGGATGTTCTGGTGT	0.498000													25	12					0	0	0.002780	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	44					0	0	0.001168	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188112	72188112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:72188112C>T	ENST00000537465.1	-	4	570	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E138K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	138										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTCTATACCTCATCTTCTTTC	0.463000													42	68					0	0	0.010771	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58024140	58024140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:58024140G>C	ENST00000225577.4	+	15	1590	c.1569G>C	c.(1567-1569)atG>atC	p.M523I	RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.M500I|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.M470I	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	523	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGCGTATGAATCTATGAC	0.463000													31	45					0	0	0.003271	0	0
RGS7	6000	broad.mit.edu	37	1	240964780	240964780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:240964780G>C	ENST00000366565.1	-	17	1769	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.S463C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	463					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTCAAAAGATGTTCTGCG	0.333000													10	18					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155203145	155203145	+	Splice_Site	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:155203145C>T	ENST00000460012.1	-	22	3241	c.2884_splice	c.e22+1	p.A962_splice	PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1000					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423000													13	50					0	0	0.013537	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955542	12955542	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:12955542A>C	ENST00000235347.4	-	2	216	c.137T>G	c.(136-138)aTg>aGg	p.M46R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	46										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACGTCTCATGCTGAAGGC	0.572000													33	21					0	0	0.011902	0	0
FCAR	2204	broad.mit.edu	37	19	55396680	55396680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:55396680C>A	ENST00000355524.3	+	3	114	c.104C>A	c.(103-105)tCg>tAg	p.S35*	FCAR_ENST00000345937.4_Nonsense_Mutation_p.S35*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391723.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000391725.3_Nonsense_Mutation_p.S35*|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391724.3_Nonsense_Mutation_p.S23*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Nonsense_Mutation_p.S35*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.S23*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	35					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.S35L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCTGCCAAATCGAGTCCTGTG	0.498000													22	34					3.62473e-10	4.71635e-10	0.012319	1	0
HMCN1	83872	broad.mit.edu	37	1	185946936	185946936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:185946936C>T	ENST00000271588.4	+	16	2618	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q797*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	797	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTTTCATACAAGAACCTGC	0.343000													49	61					0	0	0.014410	0	0
KANSL1L	151050	broad.mit.edu	37	2	210893657	210893657	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:210893657A>C	ENST00000281772.9	-	11	2571	c.2308T>G	c.(2308-2310)Tat>Gat	p.Y770D	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Y728D	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	770																	TCTATGTCATAAGAGCTCTCA	0.368000													45	65					0	0	0.013114	0	0
PGM5	5239	broad.mit.edu	37	9	71098829	71098829	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:71098829G>T	ENST00000396396.1	+	9	1573	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	448					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATATCATGAGGGACCTGGAGG	0.507000													29	57					7.38237e-10	9.53202e-10	0.006320	1	0
ENPP3	5169	broad.mit.edu	37	6	132061454	132061454	+	Silent	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:132061454C>T	ENST00000414305.1	+	25	2719	c.2391C>T	c.(2389-2391)tgC>tgT	p.C797C	ENPP3_ENST00000357639.3_Silent_p.C797C|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	797	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGGAAAACTGCCCTGGGTGGC	0.512000													31	50					0	0	0.010818	0	0
HRH4	59340	broad.mit.edu	37	18	22056718	22056718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:22056718A>T	ENST00000256906.4	+	3	465	c.365A>T	c.(364-366)tAt>tTt	p.Y122F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	122						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TAGGTGTCTTATAGAACTCAA	0.378000													7	42					0	0	0.001984	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718609	140718609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:140718609G>T	ENST00000394576.2	+	1	71	c.71G>T	c.(70-72)tGg>tTg	p.W24L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACCCTGTGGGAGGCCAGG	0.577000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	42					1.67942e-08	2.12768e-08	0.006122	1	0
ROS1	6098	broad.mit.edu	37	6	117709005	117709005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:117709005G>A	ENST00000368508.3	-	13	2150	c.1952C>T	c.(1951-1953)gCa>gTa	p.A651V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A646V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	651	Fibronectin type-III 3.				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)		TGGAGAACTTGCTCTCACAGA	0.488000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								50	70					0	0	0.014410	0	0
OR52L1	338751	broad.mit.edu	37	11	6007529	6007529	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:6007529G>T	ENST00000332249.4	-	1	686	c.632C>A	c.(631-633)aCa>aAa	p.T211K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGATTGACTGTGGTTTCTGA	0.493000													55	99					5.22555e-25	8.07804e-25	0.014410	1	0
MYO18B	84700	broad.mit.edu	37	22	26242186	26242186	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr22:26242186C>A	ENST00000335473.7	+	19	3738	c.3488C>A	c.(3487-3489)aCc>aAc	p.T1163N	MYO18B_ENST00000536101.1_Missense_Mutation_p.T1163N|MYO18B_ENST00000407587.2_Missense_Mutation_p.T1164N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1163	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGGAGGACCTTTGCCAGC	0.667000													27	36					1.04121e-07	1.30929e-07	0.005443	1	0
DMD	1756	broad.mit.edu	37	X	32404497	32404497	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:32404497G>T	ENST00000357033.4	-	33	4810	c.4604C>A	c.(4603-4605)aCg>aAg	p.T1535K	DMD_ENST00000378677.2_Missense_Mutation_p.T1531K	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	1535	Interaction with SYNM (By similarity).				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)				GGGATTTTCCGTCTGCTTTTT	0.383000													49	13					2.43139e-17	3.50162e-17	0.014410	1	0
MTMR11	10903	broad.mit.edu	37	1	149905389	149905389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:149905389C>T	ENST00000439741.2	-	10	1145	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MTMR11_ENST00000369140.3_Missense_Mutation_p.D227N|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.D271N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	299	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGACAACATCTGAATGCCCA	0.547000													31	105					0	0	0.012213	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													5	52					0	0	0.000602	0	0
ZNF112	7665	broad.mit.edu	37	19	44832694	44832694	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:44832694C>G	ENST00000354340.4	-	4	1667	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	ZNF112_ENST00000337401.4_Missense_Mutation_p.R545T|ZNF112_ENST00000536500.1_Missense_Mutation_p.R562T	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGTGTGGACTCTCTGATGAAC	0.423000													61	101					0	0	0.014410	0	0
CPS1	1373	broad.mit.edu	37	2	211473158	211473158	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:211473158G>A	ENST00000233072.5	+	19	2462	c.2266G>A	c.(2266-2268)Ggg>Agg	p.G756R	CPS1_ENST00000430249.2_Missense_Mutation_p.G762R|CPS1_ENST00000451903.2_Missense_Mutation_p.G305R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	756					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CGTCGTATCCGGGAAGACATC	0.433000													76	85					0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86124699	86124699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:86124699G>A	ENST00000394518.2	+	7	3495	c.3400G>A	c.(3400-3402)Gtg>Atg	p.V1134M	AKAP13_ENST00000361243.2_Missense_Mutation_p.V1134M	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1134					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGTTTGCCAGTGGCTCTACA	0.507000													64	19					0	0	0.014410	0	0
FBN1	2200	broad.mit.edu	37	15	48818391	48818391	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:48818391G>A	ENST00000316623.5	-	9	1379	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	308	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTAACTGCTGACTGTGTTTG	0.403000													50	11					0	0	0.014410	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473030	22473030	+	RNA	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:22473030G>T	ENST00000557788.2	-	0	240																											TTGAGGGACGGGTTGTAGTTG	0.567000													65	159					6.20203e-27	9.67632e-27	0.014410	1	0
GIN1	54826	broad.mit.edu	37	5	102423676	102423676	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:102423676C>A	ENST00000399004.2	-	8	1589	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	499					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GAACTATGATCGTCTATCAAT	0.318000													33	53					3.80469e-20	5.72403e-20	0.009535	1	0
PABPC4	8761	broad.mit.edu	37	1	40030930	40030930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:40030930C>A	ENST00000372857.3	-	8	1885	c.1093G>T	c.(1093-1095)Gtt>Ttt	p.V365F	PABPC4_ENST00000372856.3_Missense_Mutation_p.V365F|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.V365F|PABPC4_ENST00000372862.3_Missense_Mutation_p.V365F	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	365	RRM 4.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAGGGCAACATATAGTGGC	0.507000													30	17					8.4185e-14	1.15327e-13	0.012213	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170044	207170044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:207170044G>C	ENST00000374423.3	+	5	1178	c.792G>C	c.(790-792)atG>atC	p.M264I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	264							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTTACGCATGAATTCAGATA	0.388000													30	25					0	0	0.008361	0	0
GRIA4	2893	broad.mit.edu	37	11	105789531	105789531	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr11:105789531G>C	ENST00000393127.2	+	11	1809	c.1363G>C	c.(1363-1365)Gca>Cca	p.A455P	GRIA4_ENST00000530497.1_Missense_Mutation_p.A455P|GRIA4_ENST00000525187.1_Missense_Mutation_p.A455P|GRIA4_ENST00000282499.5_Missense_Mutation_p.A455P	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	455					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATCTGAAATTGCAAAACATAT	0.353000													13	5					0	0	0.013537	0	0
CSMD3	114788	broad.mit.edu	37	8	113697930	113697930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:113697930C>A	ENST00000297405.5	-	15	2431	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M625I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M729I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M689I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	729	CUB 4.					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						GAACTGTTCCCATTGGTGCAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	64					1.74197e-06	2.12697e-06	0.006320	1	0
DUS3L	56931	broad.mit.edu	37	19	5786796	5786796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:5786796C>T	ENST00000309061.7	-	9	1546	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DUS3L_ENST00000320699.8_Missense_Mutation_p.E242K	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	484					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCACGCACTCCTCGATGTAC	0.667000													19	33					0	0	0.014323	0	0
MRPL39	54148	broad.mit.edu	37	21	26960033	26960033	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr21:26960033G>A	ENST00000307301.7	-	10	1079	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	MRPL39_ENST00000352957.4_Intron	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	0						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCCATGGAGGAGGTACGACT	0.348000													15	38					0	0	0.003163	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658323	144658323	+	Silent	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:144658323C>A	ENST00000449291.2	-	8	1326	c.1032G>T	c.(1030-1032)gtG>gtT	p.V344V	NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000435154.3_Silent_p.V344V|NAPRT1_ENST00000426292.3_Silent_p.V344V|NAPRT1_ENST00000276844.7_Silent_p.V344V|RP11-661A12.9_ENST00000531730.1_RNA			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	344					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGCCAGGGCACCTGGAACC	0.667000													20	34					7.41877e-09	9.50618e-09	0.012319	1	0
MAST4	375449	broad.mit.edu	37	5	66429471	66429471	+	Silent	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:66429471A>G	ENST00000404260.3	+	17	2540	c.2232A>G	c.(2230-2232)aaA>aaG	p.K744K	MAST4_ENST00000403666.1_Silent_p.K552K|MAST4_ENST00000405643.1_Silent_p.K562K|MAST4_ENST00000261569.7_Silent_p.K547K|MAST4_ENST00000403625.2_Silent_p.K741K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	744	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCTGGATAAACAGGTAAGCT	0.408000													21	37					0	0	0.010504	0	0
ZNF233	353355	broad.mit.edu	37	19	44778658	44778658	+	Silent	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:44778658G>T	ENST00000391958.2	+	5	1972	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGATCCACACGGGAGAGAAAC	0.438000													38	56					1.06647e-15	1.51646e-15	0.003755	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459000	45459000	+	RNA	SNP	C	C	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:45459000C>T	ENST00000548424.1	+	0	448																											AGTCAGTCCTCTCCCACTTTT	0.448000													10	17					0	0	0.006214	0	0
IRF8	3394	broad.mit.edu	37	16	85946795	85946795	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:85946795G>T	ENST00000268638.5	+	5	928	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	169					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGGAGGCCTGTCGGAGTCAG	0.617000													48	88					6.17242e-35	1.00488e-34	0.014410	1	0
UBBP4	23666	broad.mit.edu	37	17	21731491	21731491	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:21731491C>A	ENST00000578713.1	+	2	570	c.566C>A	c.(565-567)cCc>cAc	p.P189H	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGGCATCCCCCCCGATCAG	0.537000													21	37					2.37509e-13	3.24051e-13	0.010504	1	0
LAMA1	284217	broad.mit.edu	37	18	7079974	7079974	+	Splice_Site	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr18:7079974C>G	ENST00000389658.3	-	3	438	c.345_splice	c.e3+1	p.Q115_splice	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	115	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCACCTACCTGTCTTAAGT	0.468000													9	59					0	0	0.004482	0	0
ABCD2	225	broad.mit.edu	37	12	39947723	39947723	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:39947723C>G	ENST00000308666.3	-	10	2349	c.2214G>C	c.(2212-2214)gaG>gaC	p.E738D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTAAGATGTCTCATCTTCAT	0.323000													4	7					0	0	0.009096	0	0
NPAP1	23742	broad.mit.edu	37	15	24923926	24923926	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:24923926C>G	ENST00000329468.2	+	1	3386	c.2912C>G	c.(2911-2913)gCt>gGt	p.A971G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AATGCAAGTGCTTTCCCCAAT	0.483000													28	16					0	0	0.005443	0	0
PLEC	5339	broad.mit.edu	37	8	145016653	145016653	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr8:145016653G>T	ENST00000357649.2	-	1	39	c.31C>A	c.(31-33)Ccg>Acg	p.P11T	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				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						ACCTCCCTCGGCGAGGCAAAG	0.756000													23	13					4.54149e-19	6.74221e-19	0.014323	1	0
RYR2	6262	broad.mit.edu	37	1	237660034	237660034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:237660034G>C	ENST00000366574.2	+	20	2502	c.2185G>C	c.(2185-2187)Ggc>Cgc	p.G729R	RYR2_ENST00000360064.6_Missense_Mutation_p.G727R|RYR2_ENST00000542537.1_Missense_Mutation_p.G713R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	729	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATTTGATGGCCTTCATCT	0.493000													65	188					0	0	0.014410	0	0
PANK3	79646	broad.mit.edu	37	5	168006280	168006280	+	Silent	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr5:168006280G>A	ENST00000239231.6	-	1	325	c.9C>T	c.(7-9)atC>atT	p.I3I		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	3					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGGCATCTTTGATCTTCATGG	0.706000													6	9					0	0	0.001984	0	0
LUM	4060	broad.mit.edu	37	12	91502199	91502199	+	Silent	SNP	G	G	C	rs144214151		TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:91502199G>C	ENST00000266718.4	-	2	1012	c.558C>G	c.(556-558)ctC>ctG	p.L186L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	186					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGGTATTCGAGTGATTTAA	0.433000													40	12					0	0	0.006230	0	0
CYFIP1	23191	broad.mit.edu	37	15	22956494	22956494	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr15:22956494G>C	ENST00000313077.7	+	16	1856	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CYFIP1_ENST00000435939.2_Missense_Mutation_p.K146N|CYFIP1_ENST00000560848.1_Missense_Mutation_p.K577N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	577					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTGGTTCCAAGAAAACCTTGA	0.408000													32	15					0	0	0.009535	0	0
THRA	7067	broad.mit.edu	37	17	38249328	38249328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr17:38249328C>A	ENST00000264637.4	+	10	1746	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Missense_Mutation_p.P389Q|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	389					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GAAGGCCGGCCGGGCGGGTCA	0.552000													31	57					4.4194e-11	5.84054e-11	0.013726	1	0
PDE10A	10846	broad.mit.edu	37	6	165957010	165957010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr6:165957010C>A	ENST00000366882.1	-	3	238	c.84G>T	c.(82-84)caG>caT	p.Q28H	PDE10A_ENST00000539869.2_Missense_Mutation_p.Q38H|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q28H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	28					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Q28fs*5(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATCTAATACCTGGGGGTGAA	0.358000													18	28					5.03518e-11	6.62835e-11	0.007413	1	0
CAPN6	827	broad.mit.edu	37	X	110491846	110491846	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrX:110491846T>G	ENST00000324068.1	-	10	1602	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	CAPN6_ENST00000541758.1_Missense_Mutation_p.T224P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	479	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AACTCGCTGGTGCGACCATGC	0.502000													15	4					0	0	0.004007	0	0
MET	4233	broad.mit.edu	37	7	116339752	116339752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr7:116339752A>G	ENST00000397752.3	+	2	814	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	MET_ENST00000436117.2_Missense_Mutation_p.Y205C|MET_ENST00000318493.6_Missense_Mutation_p.Y205C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	205	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATTCTTCTTATTTCCCAGAT	0.418000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				67	89					0	0	0.014410	0	0
NUDT9	53343	broad.mit.edu	37	4	88344060	88344060	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr4:88344060G>A	ENST00000302174.4	+	1	327	c.3G>A	c.(1-3)atG>atA	p.M1I	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	1						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGGCGCTCATGGCGGGACGCC	0.672000													32	52					0	0	0.009535	0	0
TNR	7143	broad.mit.edu	37	1	175362961	175362962	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:175362961_175362962insA	ENST00000367674.1	-	6	2018_2019	c.1310_1311insT	c.(1309-1311)cttfs	p.L437fs	TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	437	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAATGAGAAGGGCTCCCACTG	0.455													164	157	---	---	---	---					
CRB1	23418	broad.mit.edu	37	1	197390341	197390355	+	In_Frame_Del	DEL	AGATGGCCAGCATGG	AGATGGCCAGCATGG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr1:197390341_197390355delAGATGGCCAGCATGG	ENST00000367400.3	+	6	1518_1532	c.1383_1397delAGATGGCCAGCATGG	c.(1381-1398)caa>ca	p.QDGQHG461del	CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	461	EGF-like 11.				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						CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC	0.484													19	62	---	---	---	---					
FSIP2	401024	broad.mit.edu	37	2	186670222	186670223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:186670222_186670223insT	ENST00000343098.5	+	17	16456_16457	c.16456_16457insT	c.(16456-16458)tttfs	p.F5486fs	FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTCAACCACTTTTTTCAGGA	0.381													23	83	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220164922	220164922	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr2:220164922delG	ENST00000295718.2	-	9	1461	c.1221delC	c.(1219-1221)ccfs	p.P407fs	PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	407					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCCAGGCATGGGGGATGTGC	0.632													58	29	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)del	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	90	---	---	---	---					
SETX	23064	broad.mit.edu	37	9	135203353	135203376	+	In_Frame_Del	DEL	CGTGAATTGGGAGTTGAAGTCCTT	CGTGAATTGGGAGTTGAAGTCCTT	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENST00000372169.2	-	10	3791_3814	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	c.(3607-3633)agt>ag	p.RRTSTPNSR1203del	SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del			Q7Z333	SETX_HUMAN	senataxin	1203					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC	0.402													16	70	---	---	---	---					
FGF23	8074	broad.mit.edu	37	12	4479740	4479740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr12:4479740delC	ENST00000237837.1	-	3	670	c.525delG	c.(523-525)cgfs	p.R176fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	176			R -> Q (in ADHR; partially resistant to cleavage by furin).		cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGTGTGCCGCCGTGGTATGG	0.672													31	42	---	---	---	---					
ITPRIPL2	162073	broad.mit.edu	37	16	19127024	19127026	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr16:19127024_19127026delTGC	ENST00000381440.3	+	1	1771_1773	c.1241_1243delTGC	c.(1240-1245)gtg>g	p.VL414del	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	414						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCTGGCAGTGCTGCTGCGCAA	0.655													83	140	---	---	---	---					
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cga>c	p.RG147del	NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645													3	4	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)cccfs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668													10	21	---	---	---	---					
DAZ2	57055	broad.mit.edu	37	Y	25375814	25375815	+	Splice_Site	DEL	CA	CA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	509b9b7a-4866-4142-b194-be5c61237ac8	g.chrY:25375814_25375815delCA	ENST00000382440.1	+	7	834_835	c.570_splice	c.e7+1	p.Q190_splice	DAZ2_ENST00000382449.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000382294.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382434.3_Splice_Site_p.Q190_splice|DAZ2_ENST00000382306.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000400493.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382424.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382431.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382433.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000449947.1_Splice_Site_p.Q190_splice			Q13117	DAZ2_HUMAN	deleted in azoospermia 2	190	DAZ-like 1.				cell differentiation|multicellular organismal development|single fertilization|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding										ATATAATTATCAGGTAATTGAA	0.356													2	4	---	---	---	---					
TNR	7143	broad.mit.edu	37	1	175362961	175362962	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:175362961_175362962insA	ENST00000367674.1	-	6	2018_2019	c.1310_1311insT	c.(1309-1311)cttfs	p.L437fs	TNR_ENST00000263525.2_Frame_Shift_Ins_p.L437fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	437	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAATGAGAAGGGCTCCCACTG	0.455													164	157	---	---	---	---					
CRB1	23418	broad.mit.edu	37	1	197390341	197390355	+	In_Frame_Del	DEL	AGATGGCCAGCATGG	AGATGGCCAGCATGG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr1:197390341_197390355delAGATGGCCAGCATGG	ENST00000367400.3	+	6	1518_1532	c.1383_1397delAGATGGCCAGCATGG	c.(1381-1398)caa>ca	p.QDGQHG461del	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_In_Frame_Del_p.QDGQHG349del|CRB1_ENST00000538660.1_In_Frame_Del_p.QDGQHG461del|CRB1_ENST00000535699.1_In_Frame_Del_p.QDGQHG392del|CRB1_ENST00000543483.1_In_Frame_Del_p.QDGQHG160del|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	461	EGF-like 11.				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						CTCACTTCCAAGATGGCCAGCATGGATTCAGCTGC	0.484													19	62	---	---	---	---					
FSIP2	401024	broad.mit.edu	37	2	186670222	186670223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:186670222_186670223insT	ENST00000343098.5	+	17	16456_16457	c.16456_16457insT	c.(16456-16458)tttfs	p.F5486fs	FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.F5397fs	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATTCAACCACTTTTTTCAGGA	0.381													23	83	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220164922	220164922	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr2:220164922delG	ENST00000295718.2	-	9	1461	c.1221delC	c.(1219-1221)ccfs	p.P407fs	PTPRN_ENST00000409251.3_Frame_Shift_Del_p.P407fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Del_p.P317fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	407					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCCAGGCATGGGGGATGTGC	0.632													58	29	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)del	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	90	---	---	---	---					
SETX	23064	broad.mit.edu	37	9	135203353	135203376	+	In_Frame_Del	DEL	CGTGAATTGGGAGTTGAAGTCCTT	CGTGAATTGGGAGTTGAAGTCCTT	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr9:135203353_135203376delCGTGAATTGGGAGTTGAAGTCCTT	ENST00000372169.2	-	10	3791_3814	c.3609_3632delAAGGACTTCAACTCCCAATTCACG	c.(3607-3633)agt>ag	p.RRTSTPNSR1203del	SETX_ENST00000224140.5_In_Frame_Del_p.RRTSTPNSR1203del|SETX_ENST00000393220.1_In_Frame_Del_p.RRTSTPNSR1203del			Q7Z333	SETX_HUMAN	senataxin	1203					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATAC	0.402													16	70	---	---	---	---					
FGF23	8074	broad.mit.edu	37	12	4479740	4479740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr12:4479740delC	ENST00000237837.1	-	3	670	c.525delG	c.(523-525)cgfs	p.R176fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	176			R -> Q (in ADHR; partially resistant to cleavage by furin).		cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGTGTGCCGCCGTGGTATGG	0.672													31	42	---	---	---	---					
ITPRIPL2	162073	broad.mit.edu	37	16	19127024	19127026	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr16:19127024_19127026delTGC	ENST00000381440.3	+	1	1771_1773	c.1241_1243delTGC	c.(1240-1245)gtg>g	p.VL414del	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	414						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCTGGCAGTGCTGCTGCGCAA	0.655													83	140	---	---	---	---					
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cga>c	p.RG147del	NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645													3	4	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chr19:39330958_39330959insG	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)cccfs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668													10	21	---	---	---	---					
DAZ2	57055	broad.mit.edu	37	Y	25375814	25375815	+	Splice_Site	DEL	CA	CA	-			TCGA-CV-6935-01A-11D-1912-08	TCGA-CV-6935-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc0ebce-5ba2-4c18-b594-50b33ef6d116	2f8440cd-a99d-4f7c-9d8f-e87fe3c34c01	g.chrY:25375814_25375815delCA	ENST00000382440.1	+	7	834_835	c.570_splice	c.e7+1	p.Q190_splice	DAZ2_ENST00000382449.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000449947.1_Splice_Site_p.Q190_splice|DAZ2_ENST00000382434.3_Splice_Site_p.Q190_splice|DAZ2_ENST00000382294.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000400493.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382306.2_Splice_Site_p.Q190_splice|DAZ2_ENST00000382424.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382431.4_Splice_Site_p.Q190_splice|DAZ2_ENST00000382433.4_Splice_Site_p.Q190_splice			Q13117	DAZ2_HUMAN	deleted in azoospermia 2	190	DAZ-like 1.				cell differentiation|multicellular organismal development|single fertilization|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding										ATATAATTATCAGGTAATTGAA	0.356													2	4	---	---	---	---					
