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
SPATA5	166378	broad.mit.edu	37	4	123844425	123844425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:123844425C>T	ENST00000274008.3	+	1	197	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	43					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCGGCAACCTCCGGGACTCTG	0.582000													37	147					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65562094	65562094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:65562094G>A	ENST00000335987.3	+	3	756	c.404G>A	c.(403-405)cGc>cAc	p.R135H	OVOL1_ENST00000532448.1_Missense_Mutation_p.R73H	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	135					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ATGCTGAACCGCCACATGAAG	0.587000													19	76					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768537	31768537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:31768537G>A	ENST00000240587.4	-	2	2489	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	721					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGCTCAAAGGGTTAACAAA	0.587000													17	79					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17320428	17320428	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:17320428G>A	ENST00000595618.1	+	36	5810	c.5658G>A	c.(5656-5658)agG>agA	p.R1886R	MYO9B_ENST00000397274.2_Silent_p.R1886R|MYO9B_ENST00000594824.1_Silent_p.R1886R	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1886	Rho-GAP.|Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCAGATGAGGAAATACAAAG	0.567000													3	12					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31435812	31435812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr16:31435812G>A	ENST00000389202.2	+	29	3335	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1096					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAAGAAGACGAGGTCTACAA	0.522000													15	64					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80658872	80658872	+	Silent	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:80658872C>T	ENST00000458043.2	+	19	2085	c.2079C>T	c.(2077-2079)tgC>tgT	p.C693C	OTOGL_ENST00000547103.1_Silent_p.C693C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCAGCTATGCCGCCACGATG	0.522000													4	104					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922193	78922193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:78922193C>T	ENST00000261751.3	-	5	565	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	152					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATCTTGCAGGCGCTCTTGTAG	0.577000													16	52					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43338969	43338969	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:43338969C>T	ENST00000380486.3	-	4	834	c.593G>A	c.(592-594)gGg>gAg	p.G198E	C2CD2_ENST00000329623.7_Missense_Mutation_p.G43E	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	198						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACTGACCTCCCCCAGTGCTTT	0.517000													4	32					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904824	100904824	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:100904824G>A	ENST00000548884.1	+	4	889	c.348G>A	c.(346-348)gcG>gcA	p.A116A	NR1H4_ENST00000551379.1_Silent_p.A126A|NR1H4_ENST00000188403.7_Silent_p.A126A|NR1H4_ENST00000392986.3_Silent_p.A116A|NR1H4_ENST00000549996.1_Silent_p.A116A	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	126					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.A116A(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCATGGGCGCGTCAGCAGGGA	0.517000													25	77					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268762	44268762	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr18:44268762C>A	ENST00000315087.7	-	4	1092	c.432G>T	c.(430-432)caG>caT	p.Q144H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.Q180H|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.Q113H|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	144					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGAAGATCTCCTGGTTGATGT	0.597000													23	52					7.92952e-12	8.2467e-12	1	1	0
JAM2	58494	broad.mit.edu	37	21	27071048	27071048	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:27071048G>C	ENST00000480456.1	+	5	1004	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	JAM2_ENST00000400532.1_Missense_Mutation_p.E152Q|JAM2_ENST00000425221.2_Missense_Mutation_p.E116Q|JAM2_ENST00000312957.5_Missense_Mutation_p.E152Q	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	152	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AACTGTGGTAGAGCTACGATG	0.438000													10	23					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289637	74289637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:74289637C>T	ENST00000262765.5	-	4	852	c.673G>A	c.(673-675)Ggg>Agg	p.G225R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	225							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTTCTAACCCACGACGATCT	0.567000													22	58					0	0	1	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960108	139960108	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr9:139960108T>C	ENST00000409687.3	-	3	824	c.697A>G	c.(697-699)Aag>Gag	p.K233E		NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2	233						cytoplasm|nucleus											TCCAGCTCCTTCATCTGCTTC	0.607000													43	134					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117003786	117003786	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:117003786T>A	ENST00000284629.2	-	13	1354	c.1292A>T	c.(1291-1293)gAa>gTa	p.E431V		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGATCATTTTCCCGTTCATT	0.284000													8	22					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436411	25436411	+	RNA	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:25436411C>T	ENST00000424208.1	+	0	1006				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GGAAGACTTGCGTTGGGCCCA	0.637000													7	22					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517000													30	68					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858360	65858360	+	Missense_Mutation	SNP	C	C	T	rs141779215	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:65858360C>T	ENST00000395325.3	+	12	1701	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	DNAJC6_ENST00000263441.7_Missense_Mutation_p.A502V|DNAJC6_ENST00000371069.4_Missense_Mutation_p.A572V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	515	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCTCCGCCAGCGGCTCCTCCC	0.582000													3	36					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65445210	65445210	+	Silent	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:65445210G>C	ENST00000286574.4	-	10	1433	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	353					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGCTGGGCGCCTGCTGGCC	0.507000			T	HMGA2	pleomorphic salivary gland adenoma								18	44					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36708257	36708257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr22:36708257G>A	ENST00000216181.5	-	14	1795	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	522	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGAATGCCCGGGGGGCCTGC	0.642000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				15	47					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056307	81056307	+	Missense_Mutation	SNP	C	C	T	rs138149224		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr10:81056307C>T	ENST00000334512.5	+	13	1882	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	437	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCAACCCCCCGAGGCCACTC	0.632000													38	100					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916010	42916010	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr3:42916010C>G	ENST00000316161.4	-	1	1623	c.1299G>C	c.(1297-1299)tgG>tgC	p.W433C	CYP8B1_ENST00000437102.1_Missense_Mutation_p.W433C|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	433					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CGCCCGAACCCCAGGGCATGG	0.522000													33	62					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161519420	161519420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:161519420C>T	ENST00000392142.4	+	17	3783	c.3635C>T	c.(3634-3636)tCt>tTt	p.S1212F	MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1208F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1212					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGGTGACTCTGTGCTGCCC	0.622000													43	120					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995271	55995271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:55995271C>T	ENST00000598519.1	+	3	3264	c.2711C>T	c.(2710-2712)cCg>cTg	p.P904L	ZNF628_ENST00000391718.2_Missense_Mutation_p.P900L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	900						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCACTGGCCCGGGCCCCGGG	0.662000													4	20					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80378274	80378274	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:80378274G>A	ENST00000265361.3	-	17	2343	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P	SEMA3C_ENST00000419255.2_Silent_p.P594P|SEMA3C_ENST00000544525.1_Silent_p.P612P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	594	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGAGACTTGGGGGCACACT	0.458000													25	52					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51451987	51451987	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:51451987A>C	ENST00000336334.3	-	5	987	c.635T>G	c.(634-636)cTa>cGa	p.L212R	KLK5_ENST00000391809.2_Missense_Mutation_p.L212R|KLK5_ENST00000593428.1_Missense_Mutation_p.L212R	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	212	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTTCTGACTTAGCACGCTGAT	0.517000													8	51					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522000		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)			7	27					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													5	16					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839311	83839311	+	Missense_Mutation	SNP	A	A	G	rs148766490		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:83839311A>G	ENST00000302236.5	+	5	1997	c.1946A>G	c.(1945-1947)gAt>gGt	p.D649G	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	649							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAATTTCAAGATGAAGTTTTT	0.398000													21	56					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832539	40832539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:40832539G>A	ENST00000332438.4	-	2	140	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	41						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGAAGGCCCGGCTGAAGGCC	0.667000													8	37					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314025	54314025	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:54314025G>A	ENST00000324134.6	-	3	1056	c.888C>T	c.(886-888)ttC>ttT	p.F296F	NLRP12_ENST00000351894.4_Silent_p.F296F|NLRP12_ENST00000391772.1_Silent_p.F296F|NLRP12_ENST00000535162.1_Silent_p.F296F|NLRP12_ENST00000354278.3_Silent_p.F296F|NLRP12_ENST00000345770.5_Silent_p.F296F|NLRP12_ENST00000391775.3_Silent_p.F296F|NLRP12_ENST00000391773.1_Silent_p.F296F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	296	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGAGCTCATCGAAGCCGTCGA	0.587000													13	41					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104492254	104492254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:104492254C>G	ENST00000229330.4	+	13	1978	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	625	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAGCATCTCAAAGGTAGCT	0.338000													15	52					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072948	15072948	+	Silent	SNP	G	G	A	rs138937772	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:15072948G>A	ENST00000598504.1	-	8	2160	c.801C>T	c.(799-801)aaC>aaT	p.N267N	SLC1A6_ENST00000221742.3_Silent_p.N267N|SLC1A6_ENST00000430939.2_Silent_p.N203N|SLC1A6_ENST00000544886.2_Silent_p.N267N|SLC1A6_ENST00000600144.1_Silent_p.N267N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	267					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGCCCAGGGCGTTGATGCCAT	0.582000													17	81					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156747	106156747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:106156747C>T	ENST00000513237.1	+	3	2508	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	TET2_ENST00000394764.1_Nonsense_Mutation_p.R550*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R550*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R550*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R550*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R550*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R550*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	550					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R550*(20)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAGCAAACACGAGATCTTGT	0.468000			"""Mis N, F"""		MDS								14	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588160	179588160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:179588160G>A	ENST00000589042.1	-	74	21891	c.21667C>T	c.(21667-21669)Cgt>Tgt	p.R7223C	TTN_ENST00000342992.6_Missense_Mutation_p.R5979C|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6906C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6906	Ig-like 54.						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)			ACAAAGAGACGGGTAGTGCAA	0.413000													8	23					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91436545	91436545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:91436545G>A	ENST00000328850.3	+	16	2088	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000394302.1_Missense_Mutation_p.R508H|FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000444422.2_Missense_Mutation_p.R579H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	649	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTTCCTCCGCACGGAGGGG	0.672000													8	32					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629623	155629623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:155629623G>A	ENST00000368340.5	-	10	2540	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S673L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S682L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S693L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S662L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S739L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S539L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S693L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S693L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S662L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S682L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S831L	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTGTTCTCTGACAATCCTTC	0.537000													25	78					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43959639	43959639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:43959639G>A	ENST00000352133.2	+	6	1350	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R123H			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	123					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ATTGGGGAGCGCCTGCCGATT	0.517000													15	64					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:168315910G>A	ENST00000366806.2	+	18	2483	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537000			T	MLL	AL								4	59					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176733372	176733372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:176733372C>T	ENST00000280187.7	-	2	52	c.7G>A	c.(7-9)Gag>Aag	p.E3K	GPM6A_ENST00000393658.2_Missense_Mutation_p.E3K|GPM6A_ENST00000506894.1_Intron	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	3						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCATATTCTCTTCCATGGCT	0.333000													29	135					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357132	104357132	+	Silent	SNP	G	G	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr9:104357132G>T	ENST00000374806.1	-	1	151	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	24	EF-hand 1.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TAAACCTCCTGCCCAGCCTTT	0.562000													27	89					9.39395e-14	9.90173e-14	1	1	0
MLH3	27030	broad.mit.edu	37	14	75509149	75509149	+	Silent	SNP	G	G	A	rs149369905		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr14:75509149G>A	ENST00000355774.2	-	3	3527	c.3312C>T	c.(3310-3312)agC>agT	p.S1104S	MLH3_ENST00000380968.2_Silent_p.S50S|MLH3_ENST00000556740.1_Silent_p.S1104S|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Silent_p.S1104S|MLH3_ENST00000544985.1_Silent_p.S99S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1104					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAACAAGGTCGCTTCTAAAAG	0.413000								Mismatch excision repair (MMR)					19	94					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327756	88327756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr13:88327756C>T	ENST00000325089.6	+	2	332	c.113C>T	c.(112-114)gCa>gTa	p.A38V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	38						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTCGTGTGCAGAAACCATC	0.468000													19	68					0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140698574	140698574	+	Silent	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr5:140698574G>C	ENST00000313368.5	-	1	1756	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	346					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTCTAGGAGTGATTCTA	0.398000													10	6					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99156097	99156097	+	Silent	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:99156097C>A	ENST00000074304.5	+	10	1170	c.777C>A	c.(775-777)ccC>ccA	p.P259P	INPP4A_ENST00000409851.3_Silent_p.P259P|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.P259P|INPP4A_ENST00000409016.3_Silent_p.P259P|INPP4A_ENST00000523221.1_Silent_p.P259P|INPP4A_ENST00000409540.3_Silent_p.P259P	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	259					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCACGTGCCCCGGCAGTTCG	0.567000													11	42					1.58986e-06	1.61051e-06	1	1	0
DYSF	8291	broad.mit.edu	37	2	71795468	71795468	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:71795468C>T	ENST00000258104.3	+	26	3087	c.2810_splice	c.e26+1	p.T937_splice	DYSF_ENST00000409744.1_Splice_Site_p.T924_splice|DYSF_ENST00000429174.2_Splice_Site_p.T937_splice|DYSF_ENST00000409651.1_Splice_Site_p.T969_splice|DYSF_ENST00000413539.2_Splice_Site_p.T968_splice|DYSF_ENST00000410041.1_Splice_Site_p.T955_splice|DYSF_ENST00000410020.3_Splice_Site_p.T955_splice|DYSF_ENST00000409582.3_Splice_Site_p.T954_splice|DYSF_ENST00000409366.1_Splice_Site_p.T938_splice|DYSF_ENST00000394120.2_Splice_Site_p.T938_splice|DYSF_ENST00000409762.1_Splice_Site_p.T954_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	937						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGAGAAGACGTGAGTCGTG	0.632000													78	290					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32598541	32598541	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:32598541G>C	ENST00000318709.4	+	10	901	c.679_splice	c.e10-1	p.G227_splice	AVL9_ENST00000409301.1_Splice_Site_p.G227_splice|AVL9_ENST00000404479.1_Splice_Site_p.G227_splice	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	227						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATATTTTAGGCATGATTGAA	0.373000													31	47					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083																											AGCCAGCCGCGGCAGGGTCAG	0.637000													6	34					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100807317	100807317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:100807317G>A	ENST00000249330.2	-	2	1047	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	VGF_ENST00000445482.2_Nonsense_Mutation_p.Q270*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	270					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACGCCTTGGTACGCCTTG	0.701000													6	24					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856171	54856171	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:54856171C>A	ENST00000333896.5	+	13	2246	c.1861C>A	c.(1861-1863)Ctg>Atg	p.L621M	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L634M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	634					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGGGCCCGTCTGGAAGAGTC	0.597000													53	110					1.13709e-37	1.21497e-37	1	1	0
CCDC150	284992	broad.mit.edu	37	2	197597245	197597245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:197597245C>T	ENST00000389175.4	+	28	3400	c.3265C>T	c.(3265-3267)Ccc>Tcc	p.P1089S	CCDC150_ENST00000409270.1_Missense_Mutation_p.P576S|CCDC150_ENST00000272831.7_Missense_Mutation_p.P736S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1089										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAATCTTAGGCCCATGCCCAA	0.443000													31	119					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105572430	105572430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr3:105572430G>A	ENST00000264122.4	-	3	568	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	CBLB_ENST00000405772.1_Nonsense_Mutation_p.Q83*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.Q105*|CBLB_ENST00000545639.1_Nonsense_Mutation_p.Q105*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.Q83*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	83	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGTAAATGCTGATATGTATCA	0.318000			Mis S		AML								18	59					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	45073695	45073695	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:45073695C>A	ENST00000371460.1	-	5	500	c.183G>T	c.(181-183)ttG>ttT	p.L61F	SUPT3H_ENST00000371459.1_Missense_Mutation_p.L50F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L50F|SUPT3H_ENST00000371461.2_Missense_Mutation_p.L61F	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	132					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCTTCTACCAAAACTGCTG	0.333000													12	63					5.50884e-06	5.50884e-06	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76744433	76744433	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:76744433C>G	ENST00000369963.3	-	2	328	c.139G>C	c.(139-141)Gac>Cac	p.D47H	IMPG1_ENST00000369950.3_Missense_Mutation_p.D125H			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	125					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGACCCAGTCCTGATATTCC	0.498000													19	64					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35879063	35879063	+	Missense_Mutation	SNP	C	C	G	rs145948376		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:35879063C>G	ENST00000339208.6	-	22	4065	c.3925G>C	c.(3925-3927)Gtc>Ctc	p.V1309L	SYNRG_ENST00000502449.2_Missense_Mutation_p.V1174L|SYNRG_ENST00000346661.4_Missense_Mutation_p.V1297L|SYNRG_ENST00000345615.4_Missense_Mutation_p.V1219L|SYNRG_ENST00000394378.2_Missense_Mutation_p.V1254L|SYNRG_ENST00000585472.1_Missense_Mutation_p.V1230L|SYNRG_ENST00000591288.1_Missense_Mutation_p.V1103L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1309					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGGCAGGACGAGGCCAGGA	0.512000													61	193					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033987	64033987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:64033987G>A	ENST00000540288.1	+	29	3480	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R1059H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1126H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1126					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAGATTAACCGTCGGCACATC	0.642000													14	63					0	0	1	0	0
SREK1IP1	285672	broad.mit.edu	37	5	64020217	64020217	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr5:64020217T>G	ENST00000513458.4	-	5	629	c.462A>C	c.(460-462)agA>agC	p.R154S		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	154					mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TCAGTTACTTTCTGGAGAATT	0.299000													15	14					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27699998	27699998	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:27699998G>A	ENST00000270879.4	-	4	251	c.246C>T	c.(244-246)aaC>aaT	p.N82N	FCN3_ENST00000354982.2_Intron	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	82					complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGGAGCAGGTTCACTGGAT	0.607000													9	30					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97677200	97677200	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:97677200G>A	ENST00000275053.4	-	14	1874	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	MMS22L_ENST00000369251.2_Silent_p.L497L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	537					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGCTAACAGTAGAAAAAGG	0.363000													10	28					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3118953	3118953	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:3118953C>T	ENST00000078429.4	+	5	879	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	213					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCGGTCGGAGCGGAGGAAGTG	0.607000			Mis		uveal melanoma								24	80					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32594194	32594194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:32594194C>T	ENST00000318709.4	+	8	816	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	AVL9_ENST00000409301.1_Missense_Mutation_p.L199F|AVL9_ENST00000404479.1_Missense_Mutation_p.L199F	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	199						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAAGCTAATTCTTCTTGAAAA	0.289000													18	26					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804944	21804944	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr10:21804944T>C	ENST00000449193.2	-	4	4060	c.1808A>G	c.(1807-1809)cAa>cGa	p.Q603R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q524R	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		AGGAGTTGTTTGTAGGCATTT	0.418000													9	46					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572000		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)			12	53					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12514171	12514171	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:12514171G>A	ENST00000314565.4	+	2	421	c.90G>A	c.(88-90)aaG>aaA	p.K30K	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Silent_p.K11K	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		ATAGAGCCAAGATGGATGATA	0.483000													29	90					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651124	152651124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:152651124C>T	ENST00000367255.5	-	78	15297	c.14696G>A	c.(14695-14697)tGg>tAg	p.W4899*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W4899*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W4646*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4899					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCCTCAGCCAGTCCAGGGA	0.502000										HNSCC(10;0.0054)			27	76					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64978756	64978756	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:64978756G>A	ENST00000527323.1	+	21	2384	c.2144G>A	c.(2143-2145)tGa>tAa	p.*715*	CAPN1_ENST00000279247.6_Silent_p.*715*|CAPN1_ENST00000524773.1_Silent_p.*715*|CAPN1_ENST00000533820.1_Silent_p.*715*|CAPN1_ENST00000533129.1_Silent_p.*715*			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	0					positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ATGTTTGCATGAGGCAGGGAC	0.652000													10	20					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24682634	24682634	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr14:24682634G>A	ENST00000530611.1	-	1	45	c.12C>T	c.(10-12)ctC>ctT	p.L4L	CHMP4A_ENST00000347519.6_Silent_p.L47L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L4L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.L47L(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGAGCCTGCCGAGACCACTCA	0.682000													21	68					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677971	100677971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:100677971C>T	ENST00000306151.4	+	3	3338	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1092	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507000													7	480					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133553	91133553	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chrX:91133553G>A	ENST00000373094.1	+	2	3159	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M	PCDH11X_ENST00000361724.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V772M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V772M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	772	Cadherin 7.				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						CAATCTGTTCGTGAATGAGTC	0.433000													25	32					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44477352	44477352	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:44477352A>C	ENST00000360584.2	-	2	321	c.130T>G	c.(130-132)Ttt>Gtt	p.F44V	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	44						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCTCCAGAAAAGGGTGGCAGG	0.592000													25	70					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20141595	20141595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:20141595delG	ENST00000345530.3	-	18	1999	c.1884delC	c.(1882-1884)ccfs	p.P628fs	WDR35_ENST00000281405.4_Frame_Shift_Del_p.P617fs|WDR35_ENST00000416055.2_Frame_Shift_Del_p.P193fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	628										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTGAATGGGTTCCTTTA	0.259													2	4	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			6	4	---	---	---	---