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
UNC93A	54346	broad.mit.edu	37	6	167717596	167717596	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:167717596G>T	ENST00000230256.3	+	5	990	c.815G>T	c.(814-816)gGa>gTa	p.G272V	UNC93A_ENST00000366829.2_Missense_Mutation_p.G230V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	272						integral to membrane|plasma membrane		p.G272V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCAGCAAGGATTCCTCTCC	0.512000													29	201					1.30293e-26	1.57438e-26	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991282	21991282	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:21991282A>G	ENST00000594012.1	-	7	2053	c.1539T>C	c.(1537-1539)ttT>ttC	p.F513F	ZNF43_ENST00000595461.1_Silent_p.F513F|ZNF43_ENST00000354959.4_Silent_p.F519F|ZNF43_ENST00000598381.1_Silent_p.F513F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F519F(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACCACTTAAAAGCTTTGC	0.368000													50	88					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549183	226549183	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:226549183T>C	ENST00000366794.5	-	23	3166	c.3023A>G	c.(3022-3024)aAt>aGt	p.N1008S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1008	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.N1008S(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGTCTTAAAATTGAATTTCAG	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					48	98					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101712232	101712232	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:101712232C>T	ENST00000251127.6	-	42	4924	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1615						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E1615K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGTGGTCTCGATGCTGGGC	0.572000													41	185					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26570005	26570005	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:26570005G>C	ENST00000376261.3	+	12	1728	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	GAD2_ENST00000259271.3_Missense_Mutation_p.V409L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	409					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V409L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGCTCTCCTGGTTAGAGAAGA	0.488000													70	221					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994591	72994591	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:72994591G>A	ENST00000308744.6	+	2	687	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	NPFFR2_ENST00000395999.1_Missense_Mutation_p.G98S|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G95S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	197					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.G197S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTACTAGTTGGCATATTCTG	0.358000													107	341					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097855	175097855	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:175097855C>G	ENST00000239462.4	+	15	3416	c.3303C>G	c.(3301-3303)gaC>gaG	p.D1101E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1101	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D1101E(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTACTGTGACATGGAAACGG	0.602000													60	298					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882533	64882533	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882533C>T	ENST00000279263.7	+	7	1034	c.872C>T	c.(871-873)tCt>tTt	p.S291F	TM7SF2_ENST00000540748.1_Missense_Mutation_p.S175F|TM7SF2_ENST00000345348.5_Missense_Mutation_p.S291F	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	291					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.S291F(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCATGGCCTCTGTCATCTGC	0.612000													20	19					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:132641792C>T	ENST00000367963.3	-	9	1459	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.T379T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	447					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.T379T(2)|p.T447T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299000													14	78					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72601938	72601938	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:72601938G>A	ENST00000299687.5	+	6	5193	c.5193G>A	c.(5191-5193)cgG>cgA	p.R1731R	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.R1731R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1731R(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTTGACTCGGCATAAACGTG	0.448000													3	64					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129154963	129154963	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:129154963C>T	ENST00000540052.1	+	4	3489	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1149W(2)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCACAGTGCCGGAAGCTGCC	0.547000													6	36					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090777	238090777	+	RNA	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:238090777G>A	ENST00000450451.1	+	0	2283					NR_027247.2																						ACATCAGGGAGAAGCTGTGCT	0.602000													7	34					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66880001	66880001	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:66880001A>G	ENST00000269080.2	-	27	3655	c.3518T>C	c.(3517-3519)tTt>tCt	p.F1173S	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1213S|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1213S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1173						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1173S(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTAAAAAGAAAAATGATAAA	0.289000													12	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:9048764A>G	ENST00000397910.4	-	5	33070	c.32867T>C	c.(32866-32868)cTt>cCt	p.L10956P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10958	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTCACCAAGAGAAAAAGT	0.498000													7	1183					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45814933	45814933	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:45814933A>G	ENST00000320560.8	+	18	2499	c.2297A>G	c.(2296-2298)gAc>gGc	p.D766G	ANO6_ENST00000423947.3_Missense_Mutation_p.D787G|ANO6_ENST00000425752.2_Missense_Mutation_p.D766G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.D748G|ANO6_ENST00000435642.1_Missense_Mutation_p.D766G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	766					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.D766G(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCCTACGGGGACCACACTTCC	0.488000													7	594					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252962	37252962	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:37252962G>T	ENST00000310758.4	-	12	1579	c.932C>A	c.(931-933)aCc>aAc	p.T311N	ELMO1_ENST00000442504.1_Missense_Mutation_p.T311N|ELMO1_ENST00000448602.1_Missense_Mutation_p.T311N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	311					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T311N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTCCATTTTGGTCATCATCCT	0.502000													56	189					3.95532e-38	4.89591e-38	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731313	21731313	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:21731313G>C	ENST00000584755.1	+	2	1012	c.615G>C	c.(613-615)gcG>gcC	p.A205A	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.A205A(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCGGTACTCTTTC	0.517000													23	104					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305214	23305214	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:23305214C>A	ENST00000358689.4	-	4	626	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.V131L|ENTPD4_ENST00000417069.2_Missense_Mutation_p.V131L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	131					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.V131L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTCATGACCACTGGCTTTCGG	0.448000													159	530					3.11514e-58	4.05367e-58	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110827061	110827061	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:110827061A>T	ENST00000375820.4	-	38	3355	c.3234T>A	c.(3232-3234)ccT>ccA	p.P1078P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1078	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P1078P(2)|p.P721P(2)		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)			CCTTCTCTCCAGGGCTTCCTG	0.517000													89	317					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186473	239186473	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:239186473G>A	ENST00000254657.3	-	2	384	c.105C>T	c.(103-105)agC>agT	p.S35S	PER2_ENST00000254658.3_Silent_p.S35S|PER2_ENST00000355768.2_Silent_p.S35S|PER2_ENST00000440245.1_Silent_p.S35S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	35					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.S35S(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGCCACTGCTCATGTCCA	0.627000													6	36					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323436	31323436	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:31323436T>A	ENST00000269197.5	+	12	3624	c.3624T>A	c.(3622-3624)ccT>ccA	p.P1208P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P915P(2)|p.P1208P(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAACATACCTGTGTCACATT	0.398000													14	58					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60637432	60637432	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:60637432A>T	ENST00000582809.1	+	11	1032	c.329A>T	c.(328-330)tAc>tTc	p.Y110F	TLK2_ENST00000326270.9_Missense_Mutation_p.Y259F|TLK2_ENST00000542523.1_Missense_Mutation_p.Y227F|TLK2_ENST00000343388.7_Missense_Mutation_p.Y227F|TLK2_ENST00000346027.5_Missense_Mutation_p.Y259F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	259					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Y259F(4)|p.Y258F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTAGAGAAATACAAGGAACGA	0.348000													45	143					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802159	34802159	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:34802159C>T	ENST00000192788.5	+	5	675	c.504C>T	c.(502-504)cgC>cgT	p.R168R	UHRF1BP1_ENST00000452449.2_Silent_p.R168R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	168								p.R168R(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTTACCCGCATCACTGACC	0.502000													23	74					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608145	46608145	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:46608145C>A	ENST00000239174.6	-	1	214	c.122G>T	c.(121-123)aGc>aTc	p.S41I	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41I	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTTGCATAGCTGTCAACCGC	0.662000													6	35					0.00116845	0.00123539	1	1	0
ORC2	4999	broad.mit.edu	37	2	201814323	201814323	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:201814323A>C	ENST00000234296.2	-	5	531	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	94					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.V94V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAAAAGAATAAACTTTATTTC	0.284000													11	18					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													3	47					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73328799	73328799	+	Missense_Mutation	SNP	A	A	C	rs150762903		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:73328799A>C	ENST00000392562.1	-	3	940	c.158T>G	c.(157-159)aTa>aGa	p.I53R	GRB2_ENST00000392563.1_Missense_Mutation_p.I53R|GRB2_ENST00000316804.5_Missense_Mutation_p.I53R|GRB2_ENST00000392564.1_Missense_Mutation_p.I53R|GRB2_ENST00000316615.5_Missense_Mutation_p.I53R|GRB2_ENST00000578961.1_Missense_Mutation_p.I53R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	53	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.I53R(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTTCATTTCTATGTAGTTCTT	0.398000													18	95					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48700726	48700726	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:48700726G>A	ENST00000557021.1	-	7	1066	c.906C>T	c.(904-906)ccC>ccT	p.P302P	UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Silent_p.P35P|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000371674.3_Silent_p.P79P|UBE2V1_ENST00000420027.2_Silent_p.P35P|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.P302P|UBE2V1_ENST00000340309.3_Silent_p.P102P|UBE2V1_ENST00000371677.3_Silent_p.P102P	NM_199203.2	NP_954673.1			transmembrane protein 189									p.P102P(2)|p.P302P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTACAAAGGGGGGTGCTTCTG	0.358000													40	73					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792844	131792844	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:131792844G>A	ENST00000286355.5	-	18	5640	c.3548C>T	c.(3547-3549)cCa>cTa	p.P1183L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P1052L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P1183L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGTCTTCTTGGGGGCAAGAT	0.512000										HNSCC(32;0.087)			75	213					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52181038	52181038	+	Missense_Mutation	SNP	G	G	A	rs147071412	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:52181038G>A	ENST00000394970.2	-	5	846	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	POC1A_ENST00000296484.2_Missense_Mutation_p.R177W|POC1A_ENST00000474012.1_Missense_Mutation_p.R139W	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	177						centriole|microtubule basal body		p.R177W(1)		endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						ACACATTCCCGGCTGCTCTTG	0.592000													3	48					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359612	51359612	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:51359612G>A	ENST00000360617.3	+	2	163	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	KLK3_ENST00000595952.1_Missense_Mutation_p.V55M|KLK3_ENST00000597483.1_Missense_Mutation_p.V55M|KLK3_ENST00000593997.1_Missense_Mutation_p.V55M|KLK3_ENST00000326003.2_Missense_Mutation_p.V55M			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	55	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.V55M(4)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGGTGTTCTGGTGCACCCCCA	0.632000													49	166					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855612	12855612	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:12855612T>A	ENST00000332296.7	+	4	995	c.892T>A	c.(892-894)Ttg>Atg	p.L298M	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L53M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	298								p.L298M(4)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CTTGGAGAACTTGGAATTAAC	0.463000													95	261					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663203	99663203	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:99663203T>A	ENST00000373034.4	-	1	2068	c.393A>T	c.(391-393)gcA>gcT	p.A131A	PCDH19_ENST00000255531.7_Silent_p.A131A|PCDH19_ENST00000420881.2_Silent_p.A131A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	131	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A131A(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGATCTGTGCTGCCGGGAAAC	0.577000													9	62					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7318876	7318876	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:7318876G>A	ENST00000361972.4	-	7	938	c.848C>T	c.(847-849)cCt>cTt	p.P283L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P283L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	283					regulation of transcription, DNA-dependent	nucleus		p.P283L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CATTGGAAGAGGAAATTTGGC	0.388000													9	404					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421330	116421330	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:116421330G>C	ENST00000281928.3	-	21	4753	c.4547C>G	c.(4546-4548)aCt>aGt	p.T1516S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1516					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.T1516S(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCTGCAGAGTGGCTAAATA	0.473000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	102					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918921	92918921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:92918921C>A	ENST00000326402.4	-	2	245	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	39					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	p.E39*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTCATGTTCTTCATCTGAT	0.348000													41	108					5.85753e-14	6.75613e-14	1	1	0
ERMAP	114625	broad.mit.edu	37	1	43296552	43296552	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:43296552C>T	ENST00000372517.2	+	4	443	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ERMAP_ENST00000372514.3_Missense_Mutation_p.R67W|ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	67	Ig-like V-type.					integral to membrane|plasma membrane		p.R67W(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGTGGCTGCGGTCCCCATT	0.632000													5	23					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76825355	76825355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76825355G>A	ENST00000278559.3	+	5	763	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.G192S|CAPN5_ENST00000456580.2_Missense_Mutation_p.G232S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	192	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.G192S(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTCACGGGTGGTGTTTCTGA	0.567000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	303					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													6	66					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293403	62293403	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:62293403T>A	ENST00000378024.4	-	5	8760	c.8486A>T	c.(8485-8487)cAt>cTt	p.H2829L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2829					nervous system development	nucleus	protein binding	p.H2829L(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTTAAAATGCATCTCTGG	0.428000													40	116					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677924	3677924	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:3677924C>T	ENST00000294600.2	+	5	875	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	264								p.A264V(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAGAGGGAGGCCCTGAAGATG	0.587000													5	25					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			31	46					4.62619e-21	5.42842e-21	1	1	0
NAT2	10	broad.mit.edu	37	8	18257858	18257858	+	Silent	SNP	C	C	T	rs45532639	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:18257858C>T	ENST00000286479.3	+	2	452	c.345C>T	c.(343-345)gaC>gaT	p.D115D	NAT2_ENST00000520116.1_5'UTR	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	115					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.D115D(2)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACCATTGACGGCAGGAATT	0.488000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				4	228					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													8	657					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608146	46608146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:46608146T>A	ENST00000239174.6	-	1	213	c.121A>T	c.(121-123)Agc>Tgc	p.S41C	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTGCATAGCTGTCAACCGCC	0.662000													6	35					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512000													5	654					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600408	10600408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:10600408G>A	ENST00000171111.5	-	4	1994	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R483C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R483C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAATTAAGGCGGTTTGTCCCG	0.582000													4	33					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394482	39394482	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:39394482T>C	ENST00000254072.6	+	1	186	c.179T>C	c.(178-180)aTc>aCc	p.I60T		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	60	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCATCTGTGTGACC	0.637000													6	312					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:77147419G>A	ENST00000461745.1	+	2	1216	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R|ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	106	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G122R(2)|p.G106R(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTGATGAAGGAAGCTACGT	0.517000													40	123					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs144233170	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5.				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						TGAGGGTGAACGGCACCAGGA	0.468000													8	1562					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962330	69962330	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:69962330C>T	ENST00000305231.7	+	1	138	c.92C>T	c.(91-93)gCa>gTa	p.A31V	UGT2B7_ENST00000508661.1_Missense_Mutation_p.A31V|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	31					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A31V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTGGGCAGCAGAATACAGC	0.428000													73	244					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277074	75277074	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:75277074G>A	ENST00000339859.4	-	19	3210	c.3110C>T	c.(3109-3111)cCg>cTg	p.P1037L	USP54_ENST00000394811.2_Missense_Mutation_p.P125L|USP54_ENST00000428547.1_Missense_Mutation_p.P887L|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.P1037L|USP54_ENST00000422491.2_Missense_Mutation_p.P219L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1037					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.P1037Q(1)|p.P125L(1)|p.P1037L(1)|p.P125Q(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGGCATCACCGGGGAGGGGTT	0.522000													3	151					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408255	107408255	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:107408255G>T	ENST00000334504.7	-	39	4055	c.3822C>A	c.(3820-3822)ccC>ccA	p.P1274P	COL4A6_ENST00000538570.1_Silent_p.P1250P|COL4A6_ENST00000394872.2_Silent_p.P1275P|COL4A6_ENST00000372216.4_Silent_p.P1275P|COL4A6_ENST00000545689.1_Silent_p.P1250P	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1275	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1274P(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGGTCCAGCGGGGCCTGGGC	0.632000									Alport syndrome with Diffuse Leiomyomatosis				4	27					0.00024832	0.00026531	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													7	85					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39868522	39868522	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:39868522C>T	ENST00000303538.8	-	23	3140	c.2601G>A	c.(2599-2601)atG>atA	p.M867I		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	867					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.M867I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CACTAACCAACATCGCTGATA	0.393000													17	72					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388511	90388511	+	RNA	SNP	C	C	T	rs138191329	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:90388511C>T	ENST00000354530.2	+	0	377					NR_027917.1													p.P126L(2)									AGTATGTTGCCGACAATGGAG	0.458000													51	113					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													3	19					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039011	31039011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:31039011G>T	ENST00000355537.3	+	4	2632	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A829S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCAAGCAAAGCTTCTCTGTT	0.577000													36	96					2.2871e-25	2.74722e-25	1	1	0
PAGE1	8712	broad.mit.edu	37	X	49454055	49454055	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:49454055C>T	ENST00000376150.3	-	5	516	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	128					cellular defense response			p.L128L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTGGATTTGGCAGGCCCAACT	0.488000													5	586					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135288590	135288590	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:135288590C>T	ENST00000274507.1	-	2	313	c.113G>A	c.(112-114)cGc>cAc	p.R38H	LECT2_ENST00000522943.1_Missense_Mutation_p.R38H|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000514447.2_Missense_Mutation_p.R38H|LECT2_ENST00000512872.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	38					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGCCATGGCGGTCACACGT	0.517000													6	853					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922448	108922448	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:108922448G>C	ENST00000375887.4	+	1	383	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V69L|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V69L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	69					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	p.V69L(2)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TTTCTACCAGGTGGCCGCCCT	0.662000													36	163					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565414	38565414	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:38565414C>T	ENST00000287675.5	+	6	764	c.668C>T	c.(667-669)gCa>gTa	p.A223V	EXOG_ENST00000422077.2_Missense_Mutation_p.A173V|EXOG_ENST00000358249.2_Missense_Mutation_p.A83V	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	223						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.A223V(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GACAACGTGGCAGTCCCCTCA	0.453000													30	134					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2975964	2975964	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:2975964A>G	ENST00000520002.1	-	43	6945	c.6390T>C	c.(6388-6390)caT>caC	p.H2130H	CSMD1_ENST00000542608.1_Silent_p.H2129H|CSMD1_ENST00000602557.1_Silent_p.H2130H|CSMD1_ENST00000602723.1_Silent_p.H2130H|CSMD1_ENST00000400186.3_Silent_p.H2130H|CSMD1_ENST00000537824.1_Silent_p.H2129H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2130	Sushi 12.					integral to membrane		p.H1858H(2)|p.H2129H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGATCCCATGCTGACAAG	0.443000													42	130					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	430712	430712	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:430712C>A	ENST00000264554.6	-	9	1145	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	382	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		p.L743L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCCATGGCAGGCTGCAGG	0.637000													3	3					1	1	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54784148	54784148	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:54784148C>A	ENST00000218436.6	-	8	2388	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	787	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G787C(2)									GATGGAGCACCAGGTTTGGAA	0.547000													87	298					2.43828e-56	3.15268e-56	1	1	0
CALCR	799	broad.mit.edu	37	7	93073033	93073033	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:93073033T>C	ENST00000359558.2	-	11	1086	c.787A>G	c.(787-789)Atg>Gtg	p.M263V	CALCR_ENST00000421592.1_Missense_Mutation_p.M245V|CALCR_ENST00000360249.4_Missense_Mutation_p.M245V|CALCR_ENST00000394441.1_Missense_Mutation_p.M229V|CALCR_ENST00000426151.1_Missense_Mutation_p.M229V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	245					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.M229V(1)|p.M263V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CAGGCCATCATGTACTGGTGG	0.453000													5	257					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418997	53418997	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:53418997C>A	ENST00000377942.3	-	3	3114	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G874W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971W(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGTTGGGCCCGCTGCAGGAT	0.577000													9	37					0.00621372	0.00643563	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140261961	140261961	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:140261961C>T	ENST00000289272.2	+	1	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P36P|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P36P(3)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGTCCCCGAGGAAGCAA	0.657000													35	87					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882511	64882511	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882511C>A	ENST00000279263.7	+	7	1012	c.850C>A	c.(850-852)Ccc>Acc	p.P284T	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168T|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCCGCAGCCCCTGGGGTT	0.612000													5	52					0.014758	0.0151307	1	1	0
RYR2	6262	broad.mit.edu	37	1	237819148	237819148	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:237819148G>C	ENST00000366574.2	+	53	8310	c.7993G>C	c.(7993-7995)Gca>Cca	p.A2665P	RYR2_ENST00000360064.6_Missense_Mutation_p.A2663P|RYR2_ENST00000542537.1_Missense_Mutation_p.A2649P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2665	4 X approximate repeats.|Modulator (Potential).				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	p.A2663P(2)		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)			TTTCAAACTGGCACTGCCTTG	0.408000													6	27					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071639	132071639	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:132071639C>T	ENST00000336375.5	+	9	1030	c.940C>T	c.(940-942)Cac>Tac	p.H314Y	ACPP_ENST00000475741.1_Missense_Mutation_p.H281Y|ACPP_ENST00000351273.7_Missense_Mutation_p.H314Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	314						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.H314Y(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCTTCTTGCCACTTGACGGA	0.403000													7	388					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865249	6865249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:6865249C>G	ENST00000307659.5	+	7	3595	c.3140C>G	c.(3139-3141)cCa>cGa	p.P1047R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1047R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1047							ATP binding	p.P1047R(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTAAGCAATCCATTTTCACAA	0.383000													40	90					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13649600	13649600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:13649600G>T	ENST00000404922.3	+	3	1464	c.1345G>T	c.(1345-1347)Gga>Tga	p.G449*	FBLN2_ENST00000492059.1_Nonsense_Mutation_p.G449*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.G449*|FBLN2_ENST00000535798.1_Nonsense_Mutation_p.G475*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	449	Anaphylatoxin-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.G449*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCGCAGCCGGACAGCAGTG	0.577000													13	39					4.7546e-09	5.27423e-09	1	1	0
SCAI	286205	broad.mit.edu	37	9	127818229	127818229	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:127818229T>A	ENST00000336505.5	-	3	214	c.156A>T	c.(154-156)ccA>ccT	p.P52P	SCAI_ENST00000373549.4_Silent_p.P75P	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	52	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.P75P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TCTCTCCCTGTGGGATATCAT	0.378000													29	55					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946696	70946696	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:70946696T>C	ENST00000334414.6	-	21	5292	c.5248A>G	c.(5248-5250)Aaa>Gaa	p.K1750E	PTPRB_ENST00000550358.1_Missense_Mutation_p.K1662E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1442E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1442E|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1532E|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1442E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1532	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K1532E(2)|p.K1750E(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCGGCACATTTGCTGGCAAAA	0.473000													9	756					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178571	31178571	+	Silent	SNP	G	G	T	rs145356432		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:31178571G>T	ENST00000349752.5	-	6	1206	c.567C>A	c.(565-567)atC>atA	p.I189I	GALNT14_ENST00000406653.1_Silent_p.I169I|GALNT14_ENST00000356174.3_Silent_p.I156I|GALNT14_ENST00000324589.5_Silent_p.I194I|GALNT14_ENST00000420311.2_Silent_p.I154I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	189	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I189I(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTGGGCGATGTCAGCGC	0.602000													42	104					4.64027e-19	5.38271e-19	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139407481	139407481	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:139407481G>A	ENST00000277541.6	-	15	2534	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	820	EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P820L(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTGTGTAGGGCAGCAGGCA	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	5					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973554	29973554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:29973554G>T	ENST00000378993.1	+	11	2381	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.E570*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	570	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E570*(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATTACACATGAGCAGGCTTT	0.488000													27	104					1.06801e-11	1.20448e-11	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105833976	105833976	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:105833976G>A	ENST00000353479.5	-	6	635	c.345C>T	c.(343-345)ggC>ggT	p.G115G	COL17A1_ENST00000393211.3_Silent_p.G115G|COL17A1_ENST00000369733.3_Silent_p.G115G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	115	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G115G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAAGAGTTGCCACTGGAGC	0.478000													50	186					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46595675	46595675	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:46595675G>A	ENST00000539173.1	+	4	494	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ADARB1_ENST00000389863.4_Missense_Mutation_p.R20H|ADARB1_ENST00000348831.4_Missense_Mutation_p.R20H|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Missense_Mutation_p.R20H	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	20					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.R20H(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AAGGAAAACCGCAATCTGGAC	0.542000													5	648					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:35922941G>T	ENST00000490799.1	-	17	2573	c.2220C>A	c.(2218-2220)gtC>gtA	p.V740V	SLC26A8_ENST00000355574.2_Silent_p.V740V|SLC26A8_ENST00000394602.2_Silent_p.V635V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	740	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512000													102	394					1.8599e-75	2.43587e-75	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244104	42244104	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:42244104G>T	ENST00000327628.5	+	13	2004	c.1604G>T	c.(1603-1605)aGc>aTc	p.S535I	TRAK1_ENST00000341421.3_Missense_Mutation_p.S477I|TRAK1_ENST00000396175.1_Missense_Mutation_p.S477I|TRAK1_ENST00000449246.1_Missense_Mutation_p.S461I|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	535					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.S477I(4)|p.S535I(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGCTGCGCAGCGGCTCCCTC	0.637000													10	61					1.05317e-09	1.18118e-09	1	1	0
RELB	5971	broad.mit.edu	37	19	45515272	45515272	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:45515272G>C	ENST00000221452.8	+	4	392	c.242G>C	c.(241-243)cGc>cCc	p.R81P	RELB_ENST00000540120.1_Missense_Mutation_p.R81P|RELB_ENST00000505236.1_Missense_Mutation_p.R78P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	81						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R81P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGCTGCCACGCCTGGTGTCT	0.711000													2	2					0	0	1	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122412	43122412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:43122412T>G	ENST00000344697.2	-	2	857	c.512A>C	c.(511-513)gAc>gCc	p.D171A	GTDC2_ENST00000441964.1_Missense_Mutation_p.D171A	NM_032806.4	NP_116195.2												p.D171A(1)									TGGCAGCAGGTCGTCATGAAA	0.637000													7	48					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148044438	148044438	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:148044438T>G	ENST00000370460.2	+	13	3363	c.2884T>G	c.(2884-2886)Tgt>Ggt	p.C962G	AFF2_ENST00000370457.5_Missense_Mutation_p.C929G|AFF2_ENST00000286437.5_Missense_Mutation_p.C603G|AFF2_ENST00000342251.3_Missense_Mutation_p.C929G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	962					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.C962G(2)|p.C603G(1)		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)					AGGCAAATTCTGTGCTACTTT	0.373000													5	121					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:31876897G>T	ENST00000396184.3	-	12	1304	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	PDE1C_ENST00000396182.2_Missense_Mutation_p.A367D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A367D|PDE1C_ENST00000396191.1_Missense_Mutation_p.A367D|PDE1C_ENST00000396193.1_Missense_Mutation_p.A427D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A367D(4)|p.A427D(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAGGGATAAGGCTTTTGGCTT	0.408000													71	169					5.32961e-40	6.71994e-40	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047658	46047658	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:46047658T>A	ENST00000397911.3	+	1	619	c.570T>A	c.(568-570)ccT>ccA	p.P190P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	190	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.P190P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGTAAGCCTGTCTGCTGCA	0.592000													70	243					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117098010	117098010	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:117098010G>C	ENST00000320934.3	-	5	1262	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	211	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	p.S211C(2)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGGTCATTAGAGTTGAGGTC	0.557000			T	IGH@	MLCLS								54	93					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569580	107569580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:107569580G>A	ENST00000393561.1	-	29	5072	c.4888C>T	c.(4888-4890)Cag>Tag	p.Q1630*	LAMB1_ENST00000222399.6_Nonsense_Mutation_p.Q1606*			P07942	LAMB1_HUMAN	laminin, beta 1	1606	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.Q1606*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCGACCTGGGCCTTTTCT	0.408000													5	561					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502261	110502261	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:110502261G>A	ENST00000378402.5	+	60	10065	c.9961G>A	c.(9961-9963)Gta>Ata	p.V3321I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3321					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V3323I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGATATGCTGTAACGTTTCT	0.308000										HNSCC(38;0.096)			3	80					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTGAGTCCGCATGCCAATG	0.507000													5	634					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72178676	72178676	+	RNA	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:72178676T>C	ENST00000438125.1	-	0	886							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GGGTACATTATTGGTTCTCCC	0.473000													35	49					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025069	84025069	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:84025069C>T	ENST00000369705.3	-	6	780	c.664G>A	c.(664-666)Gat>Aat	p.D222N	ME1_ENST00000543031.1_Missense_Mutation_p.D147N|ME1_ENST00000541327.1_Missense_Mutation_p.D56N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	222					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D222N(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAAAAATCATCATATTCAGAA	0.299000													58	303					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9303303	9303303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:9303303G>T	ENST00000261336.2	-	34	4349	c.4321C>A	c.(4321-4323)Caa>Aaa	p.Q1441K	PZP_ENST00000381997.2_Missense_Mutation_p.Q1227K	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.Q1441K(2)|p.Q1227K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGATGTCTTGCAGAACCATG	0.403000													35	133					9.9998e-32	1.23028e-31	1	1	0
HNRNPL	3191	broad.mit.edu	37	19	39330766	39330766	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:39330766A>G	ENST00000594769.1	-	1	52	c.53T>C	c.(52-54)aTg>aCg	p.M18T	HNRNPL_ENST00000600873.1_Silent_p.N268N|HNRNPL_ENST00000221419.5_Silent_p.N401N														p.N401N(2)|p.N268N(2)									AGCAGAAGACATTGAAGACTC	0.572000													16	67					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76829344	76829344	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76829344G>C	ENST00000278559.3	+	8	1302	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.Q371H|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q411H	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	371	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.Q371H(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCGCGACAGAACCGCGGTG	0.642000													6	17					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160304777	160304777	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:160304777T>G	ENST00000392783.2	-	5	973	c.478A>C	c.(478-480)Agt>Cgt	p.S160R	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S160R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.S158R|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S158R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	160	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S160R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCGATTACTTTTTCCCGAA	0.368000													8	276					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230372	77230372	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:77230372G>T	ENST00000237642.6	+	2	1040	c.296G>T	c.(295-297)aGa>aTa	p.R99I	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR	NM_003943.4	NP_003934.1												p.R99I(2)									GCATCATGGAGATTGCAGAAT	0.418000													18	91					1.67942e-08	1.83291e-08	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487232	248487232	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:248487232G>T	ENST00000317965.2	-	1	667	c.639C>A	c.(637-639)atC>atA	p.I213I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AAGTGATGATGATTGCAACAG	0.423000													16	1761					0.000673444	0.000715755	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805391	54805391	+	Missense_Mutation	SNP	G	G	T	rs146327371		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:54805391G>T	ENST00000306858.7	+	5	1738	c.1622G>T	c.(1621-1623)cGt>cTt	p.R541L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCGGCTTCGTTCCTCTTTA	0.418000													27	117					7.68411e-24	9.17574e-24	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1629958	1629958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:1629958G>A	ENST00000381580.1	-	2	250	c.71C>T	c.(70-72)tCc>tTc	p.S24F	SIRPG_ENST00000303415.3_Missense_Mutation_p.S57F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S57F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S57F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S57F			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	57					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.S57F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGAAGCAGGGAGGTCACAGT	0.537000													27	125					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64879032	64879032	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64879032G>A	ENST00000279281.3	+	10	2414	c.2322G>A	c.(2320-2322)gtG>gtA	p.V774V	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)									p.V774V(2)									AGCCCAGTGTGGTTGAGGTCA	0.652000													5	8					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26686436	26686436	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:26686436G>T	ENST00000272371.2	-	41	5233	c.5107C>A	c.(5107-5109)Cgc>Agc	p.R1703S	OTOF_ENST00000339598.3_Missense_Mutation_p.R936S|OTOF_ENST00000403946.3_Missense_Mutation_p.R1703S|OTOF_ENST00000402415.3_Missense_Mutation_p.R1013S|OTOF_ENST00000338581.6_Missense_Mutation_p.R936S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1703					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R1013S(1)|p.R936S(1)|p.R1703S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCCAGGCGGCCCTGAGGA	0.617000													3	4					0.004672	0.00488874	1	1	0
ACIN1	22985	broad.mit.edu	37	14	23547389	23547389	+	Silent	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:23547389C>G	ENST00000262710.1	-	8	2595	c.2268G>C	c.(2266-2268)ctG>ctC	p.L756L	ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000555053.1_Silent_p.L756L|ACIN1_ENST00000457657.1_Silent_p.L716L|ACIN1_ENST00000605057.1_Silent_p.L698L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	756					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.L756L(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGATTCTGGCAGATGAGAGG	0.507000													69	147					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714578	13714578	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:13714578G>A	ENST00000265104.4	-	75	13165	c.13061C>T	c.(13060-13062)gCg>gTg	p.A4354V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4354					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A4354V(1)		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)					GGCCACCACCGCCTCCCGGGT	0.577000									Kartagener syndrome				4	263					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P531P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562000													5	392					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G	rs140304162	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:20170018C>G	ENST00000338912.5	-	0	253																		p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547000													7	541					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60666746	60666746	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:60666746T>G	ENST00000227524.4	-	11	1064	c.859A>C	c.(859-861)Act>Cct	p.T287P		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	287					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.T287P(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						ATCCTGATAGTGGCATCGGGG	0.488000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	63					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383369	37383369	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:37383369C>A	ENST00000520965.1	-	6	633	c.567G>T	c.(565-567)ctG>ctT	p.L189L	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Silent_p.L108L|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L108L(2)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTGATTCCAGATCTGAAA	0.313000													10	52					0.00010058	0.00010803	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114388965	114388965	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:114388965A>T	ENST00000343508.3	-	2	229		c.e2+1		CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(2)		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						CAGGATATCTACCTGAGGCTG	0.552000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	105					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603225	26603225	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:26603225A>G	ENST00000252992.4	+	13	2233	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	CEP85_ENST00000451429.2_Missense_Mutation_p.N650S|CEP85_ENST00000469609.1_3'UTR	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	701						centrosome|nucleolus|spindle pole		p.N701S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGACCCCAATCTCTCCCTG	0.592000													13	27					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	592577	592577	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:592577C>A	ENST00000230449.4	-	11	1219	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	362					exocytosis|protein transport			p.D362Y(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCATGAAGGTCAGACAGGTAC	0.428000													4	152					0.184627	0.187397	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41465695	41465695	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:41465695C>T	ENST00000400454.1	-	21	4280	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1268	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.G1268E(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCCTCTTCCGGCTGAAGT	0.488000													12	47					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													2	2					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44891010	44891010	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:44891010G>C	ENST00000261866.7	-	22	3727	c.3711C>G	c.(3709-3711)gcC>gcG	p.A1237A	SPG11_ENST00000427534.2_Silent_p.A1237A|SPG11_ENST00000535302.2_Silent_p.A1237A|SPG11_ENST00000558319.1_Silent_p.A1237A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1237					cell death	cytosol|integral to membrane|nucleus	protein binding	p.A1237A(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTATAACATAGGCTTCATTGC	0.408000													38	165					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183867	89183867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:89183867G>C	ENST00000295908.6	-	7	1388	c.999C>G	c.(997-999)taC>taG	p.Y333*		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	333	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.Y333*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CCTCAGTACCGTACTGTATTG	0.418000													22	86					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22587979	22587979	+	RNA	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:22587979T>A	ENST00000550753.1	+	0	2454					NR_003676.2																						CCCTGCTGGTTCTAATGGCCA	0.527000													27	215					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671907	45671907	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:45671907G>T	ENST00000308064.2	-	4	1237	c.567C>A	c.(565-567)aaC>aaA	p.N189K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	189					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.N189K(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGGTCAGGTTGAGTAGCC	0.721000													6	18					0.00621372	0.00643563	1	1	0
DSG1	1828	broad.mit.edu	37	18	28908187	28908187	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:28908187A>T	ENST00000257192.4	+	4	464	c.252A>T	c.(250-252)acA>acT	p.T84T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	84	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.T84T(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAAGTTACATACCGCATCT	0.373000													53	226					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810712	53810712	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53810712T>C	ENST00000288139.3	+	37	4623	c.4505T>C	c.(4504-4506)tTa>tCa	p.L1502S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1482S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1467S|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L374S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1482					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1502S(2)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTCACCATTTAGATGAATTC	0.403000													18	99					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83372454	83372454	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:83372454C>A	ENST00000262752.2	-	10	805	c.798G>T	c.(796-798)atG>atT	p.M266I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M266I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	266	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.M266I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCAGTAAGCATTTCAAACT	0.284000													14	77					7.41877e-09	8.1406e-09	1	1	0
APOBEC3G	60489	broad.mit.edu	37	22	39479863	39479863	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:39479863C>A	ENST00000407997.3	+	5	1066	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.Q237K	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.Q237K(4)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTGCTGAACCAGCGCAGGGG	0.572000													12	63					0.0332995	0.0339689	1	1	0
PRNT	149830	broad.mit.edu	37	20	4713162	4713162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:4713162A>T	ENST00000326539.2	-	2	1098	c.161T>A	c.(160-162)tTa>tAa	p.L54*	PRNT_ENST00000423718.2_Nonsense_Mutation_p.L54*|PRNT_ENST00000418528.1_Nonsense_Mutation_p.L54*														p.L54*(4)		endometrium(2)|lung(5)	7						cagaaaggataatggccatgc	0.483000													17	105					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554286	41554286	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:41554286A>T	ENST00000396942.1	-	25	2726	c.2643T>A	c.(2641-2643)tcT>tcA	p.S881S	ANK1_ENST00000379758.2_Silent_p.S881S|ANK1_ENST00000289734.7_Silent_p.S881S|ANK1_ENST00000347528.4_Silent_p.S881S|ANK1_ENST00000396945.1_Silent_p.S881S|ANK1_ENST00000265709.8_Silent_p.S922S|ANK1_ENST00000352337.4_Silent_p.S881S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	881					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S881S(2)|p.S922S(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATACTCTTTAGATGCCTGAG	0.632000													4	5					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203453021	203453021	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:203453021C>T	ENST00000343110.2	+	2	836	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	237					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P237S(1)		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)			GAGAAAGATGCCGCCCAGGGT	0.552000													7	535					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40054003	40054003	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:40054003G>T	ENST00000373233.3	-	29	4338	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1387					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P1387P(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAACTGGCCAGGGCGATTTGT	0.512000													11	35					7.03913e-09	7.76599e-09	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125877379	125877379	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:125877379C>A	ENST00000393434.2	-	3	580	c.231G>T	c.(229-231)ggG>ggT	p.G77G	ALDH1L1_ENST00000452905.2_Silent_p.G77G|ALDH1L1_ENST00000393431.2_Silent_p.G77G|ALDH1L1_ENST00000273450.3_Silent_p.G87G|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000472186.1_Silent_p.G77G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	77	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G77G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGCTCGGCCCCCAAAGCCT	0.567000													17	69					5.35267e-07	5.81065e-07	1	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195087	18195087	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:18195087G>A	ENST00000314254.3	+	1	704	c.284G>A	c.(283-285)cGc>cAc	p.R95H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R95H(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATCTCATCCGCAAAATCCTC	0.517000													4	184					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389321	9389321	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:9389321G>A	ENST00000378501.2	+	19	1810	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I	PLCB4_ENST00000278655.4_Missense_Mutation_p.V599I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.V599I|PLCB4_ENST00000334005.3_Missense_Mutation_p.V599I|PLCB4_ENST00000414679.2_Missense_Mutation_p.V611I|PLCB4_ENST00000378473.3_Missense_Mutation_p.V611I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	599	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.V599I(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TAATGAATCAGTCGGTCTTGG	0.388000													4	120					0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731759	53731759	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:53731759C>A	ENST00000248706.3	+	4	752	c.534C>A	c.(532-534)ttC>ttA	p.F178L	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	178	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.F178L(2)		autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GCTGCTCATTCTATGAAGTGT	0.507000													88	329					6.23761e-45	7.91397e-45	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18906919	18906919	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:18906919G>A	ENST00000388995.6	-	2	659	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	FAM83G_ENST00000585154.2_Missense_Mutation_p.R146W|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R146W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	146								p.R146W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACGCTAGCCCGGGTCACGCCG	0.677000													3	6					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919343	54919343	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:54919343G>T	ENST00000474759.1	+	22	1996	c.1948G>T	c.(1948-1950)Gca>Tca	p.A650S	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A556S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A650S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A650S|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	650						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A650S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGTGTCCTTGGCAGATGAATG	0.493000													50	222					3.95532e-38	4.89591e-38	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62020210	62020210	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:62020210C>T	ENST00000435607.1	-	23	4340	c.4264G>A	c.(4264-4266)Gtg>Atg	p.V1422M	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1422M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1422					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1422M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGACGACCACGAAGTCAAAG	0.582000													4	57					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943796	9943796	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:9943796G>A	ENST00000396573.2	-	6	1454	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.T382M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T225M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T382M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T382M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T382M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	382					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	p.T382M(1)		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)	CAGGCTCAGCGTATGGTTCTC	0.582000													4	354					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:154858045G>T	ENST00000460393.1	+	10	1041	c.921G>T	c.(919-921)caG>caT	p.Q307H	MME_ENST00000492661.1_Missense_Mutation_p.Q307H|MME_ENST00000360490.2_Missense_Mutation_p.Q307H|MME_ENST00000493237.1_Missense_Mutation_p.Q307H|MME_ENST00000462745.1_Missense_Mutation_p.Q307H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q307H(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTGGCCCAGATCCAAAATA	0.323000													32	138					2.54651e-27	3.09545e-27	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885786	88885786	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:88885786C>A	ENST00000319675.3	-	1	510	c.414G>T	c.(412-414)ttG>ttT	p.L138F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	138								p.L138F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGGGAATCCAAGTGATTCA	0.562000													30	138					8.4185e-14	9.65512e-14	1	1	0
GSTA3	2940	broad.mit.edu	37	6	52762756	52762756	+	Splice_Site	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:52762756T>C	ENST00000211122.3	-	6	480		c.e6-2		GSTA3_ENST00000370968.1_Splice_Site	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.?(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTGTAACACCTGGAGAATTTG	0.522000													4	588					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332841	31332841	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:31332841C>T	ENST00000544665.3	+	16	1969	c.1898C>T	c.(1897-1899)gCa>gTa	p.A633V	ITGAM_ENST00000287497.8_Missense_Mutation_p.A632V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	632					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.A632V(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGAAGTGGCAAGGAATGTA	0.507000													35	949					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413000													3	44					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375459	65375459	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:65375459C>T	ENST00000309100.3	-	3	1488	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	MAP3K11_ENST00000530153.1_Missense_Mutation_p.A78T	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	335	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.A335T(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TTGTTAACAGCTACGCCATAG	0.607000													11	16					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			31	46					3.21399e-22	3.79326e-22	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185520	127185520	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:127185520G>C	ENST00000371124.3	-	1	862	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	222						cytoplasm|cytoskeleton		p.I222M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCTCCAAGGCGATGTAGCACA	0.527000													145	733					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003109	122003109	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:122003109C>A	ENST00000498619.1	+	7	2776	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	CASR_ENST00000296154.5_Missense_Mutation_p.L770I|CASR_ENST00000490131.1_Missense_Mutation_p.L770I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	770					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGGGCTCCCTCATGGCCCT	0.582000													34	112					1.414e-09	1.57716e-09	1	1	0
BBS2	583	broad.mit.edu	37	16	56536674	56536674	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:56536674T>A	ENST00000245157.5	-	8	1271	c.851A>T	c.(850-852)aAt>aTt	p.N284I	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.N284I	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	284					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.N284I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AGAAGAAAAATTGTCCTTAAA	0.418000									Bardet-Biedl syndrome				7	269					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221917	44221917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:44221917C>T	ENST00000330884.4	-	7	939	c.819G>A	c.(817-819)atG>atA	p.M273I	SULT4A1_ENST00000540422.1_Missense_Mutation_p.M160I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.M273I(2)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CACACTTTCCCATCTTCTGTT	0.418000													48	155					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839373	233839373	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:233839373C>T	ENST00000264051.3	-	2	506	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	76	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.K76K(4)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTCTCTGGCCTTGGCTTTGC	0.512000													51	130					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388726	80388726	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:80388726A>C	ENST00000265080.4	+	10	1564	c.1497A>C	c.(1495-1497)acA>acC	p.T499T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	499	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.T499T(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTATTTACAAAACACTTTT	0.388000													63	247					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157209	154157209	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:154157209G>T	ENST00000360256.4	-	14	5056	c.4856C>A	c.(4855-4857)tCc>tAc	p.S1619Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1619	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S1619Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCGTTCAGGGACAAAATGGT	0.408000													202	584					1.11774e-150	1.47339e-150	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:20404500C>A	ENST00000285600.4	+	1	734	c.675C>A	c.(673-675)gtC>gtA	p.V225V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATCGGTGTCCGATGCAGGT	0.418000													39	159					9.85521e-28	1.20518e-27	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:55143640C>A	ENST00000396331.1	+	6	970	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	LILRB1_ENST00000324602.7_Missense_Mutation_p.P205T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGAACTCTCCCTATGAGTG	0.607000										HNSCC(37;0.09)			47	169					8.28887e-21	9.67034e-21	1	1	0
DAW1	164781	broad.mit.edu	37	2	228750068	228750068	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:228750068A>T	ENST00000373666.2	+	2	678	c.40_splice	c.e2-1	p.G14_splice	DAW1_ENST00000309931.2_Splice_Site_p.G14_splice|DAW1_ENST00000545118.1_5'UTR					dynein assembly factor with WDR repeat domains 1									p.G14G(2)									TTTCTATAGGAATTATGTTGG	0.303000													17	62					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882512	64882512	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882512C>A	ENST00000279263.7	+	7	1013	c.851C>A	c.(850-852)cCc>cAc	p.P284H	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168H|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284H	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCGCAGCCCCTGGGGTTG	0.612000													5	51					0.014758	0.0151307	1	1	0
TRBV4-1	28617	broad.mit.edu	37	7	142013440	142013440	+	RNA	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:142013440G>A	ENST00000390357.3	+	0	324																											TCACCTACACGCCCTGCAGCC	0.527000													5	163					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127434426	127434426	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:127434426C>T	ENST00000337623.3	+	18	2744	c.2639C>T	c.(2638-2640)gCg>gTg	p.A880V	RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.A914V|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.A880V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CGGATTTGTGCGCAGGCCCAC	0.448000													5	351					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116276859	116276859	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:116276859G>A	ENST00000374140.2	+	16	1808	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	RGS3_ENST00000394646.3_Silent_p.P252P|RGS3_ENST00000343817.5_Silent_p.P252P|RGS3_ENST00000374136.1_Silent_p.P159P|RGS3_ENST00000317613.6_Silent_p.P421P|RGS3_ENST00000350696.5_Silent_p.P533P	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	533					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGAGGCCGCATGCCACGC	0.587000													4	191					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064849	37064849	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:37064849G>A	ENST00000282516.8	+	47	8769	c.8270G>A	c.(8269-8271)cGc>cAc	p.R2757H		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2757					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.R2757H(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGTGATGGCCGCAAACTGGTG	0.458000													4	272					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422463	89422463	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:89422463G>A	ENST00000359595.3	-	4	745	c.531C>T	c.(529-531)taC>taT	p.Y177Y	HAPLN3_ENST00000562889.1_Silent_p.Y239Y	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	177	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.Y177Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTGAACTGGTAGCGCCCGT	0.657000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													3	26					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89931018	89931018	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:89931018G>A	ENST00000405460.2	+	10	2023	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	643					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V643I(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTTTACTGGTTACTCCAGC	0.378000													52	171					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110570411	110570411	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:110570411A>G	ENST00000242591.5	+	5	995	c.489A>G	c.(487-489)atA>atG	p.I163M	IFT81_ENST00000552912.1_Missense_Mutation_p.I163M|IFT81_ENST00000361948.4_Missense_Mutation_p.I163M	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	163					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.I163M(4)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTCAAGATATCTGGATTTT	0.259000													6	17					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:55563901G>T	ENST00000335605.1	+	1	870	c.870G>T	c.(868-870)ctG>ctT	p.L290L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L290L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408000													21	73					2.21704e-12	2.51429e-12	1	1	0
LRP6	4040	broad.mit.edu	37	12	12288174	12288174	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:12288174T>C	ENST00000261349.4	-	17	3744	c.3668A>G	c.(3667-3669)gAt>gGt	p.D1223G	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.D1223G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1223	EGF-like 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.D1223G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTAGTACCATCCCCCTTTAC	0.468000													4	378					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133716	167133716	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:167133716C>T	ENST00000375387.4	-	16	2994	c.2654G>A	c.(2653-2655)gGc>gAc	p.G885D	SCN9A_ENST00000409435.1_Missense_Mutation_p.G884D|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.G873D|SCN9A_ENST00000303354.6_Missense_Mutation_p.G885D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	884						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGCTGCATGCCGACCACAGC	0.463000													6	696					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220371	1220371	+	Splice_Site	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:1220371G>T	ENST00000326873.7	+	4	1637		c.e4-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(5)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCGCAGGTACTTCTGT	0.652000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			2	1					0.004672	0.00488874	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64383808	64383808	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:64383808C>T	ENST00000355086.3	+	3	906	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R128W|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R88W	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	128					axon guidance	cytosol		p.R128W(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTGATTATGCGGTTCATGCA	0.418000													6	860					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985890	60985890	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:60985890C>G	ENST00000398117.1	-	1	1471	c.10G>C	c.(10-12)Gct>Cct	p.A4P	BCL2_ENST00000333681.4_Missense_Mutation_p.A4P|BCL2_ENST00000589955.1_Missense_Mutation_p.A4P|BCL2_ENST00000444484.1_Missense_Mutation_p.A4P	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	4					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.A4P(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTTCTCCCAGCGTGCGCCATC	0.587000			T	IGH@	"""NHL, CLL"""								4	33					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418000													6	1159					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15118613	15118613	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:15118613G>A	ENST00000253699.3	-	12	1670	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R353W	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	353	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	p.R353W(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTCTGCAGCCGCAAATTGCTT	0.463000													4	204					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410483	159410483	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:159410483G>A	ENST00000423932.3	+	1	972	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	312					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.C312Y(2)|p.C312F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GATGCTCTGTGCAGGGCTGTT	0.483000													24	128					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19049313	19049313	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:19049313G>A	ENST00000421369.3	+	8	1351	c.793G>A	c.(793-795)Gca>Aca	p.A265T	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000304381.5_Missense_Mutation_p.A375T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	375						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGTTTTAGGGGCATGCTTTTA	0.398000													5	947					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19961381	19961381	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:19961381C>A	ENST00000295824.9	-	3	1101	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.D184Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	314					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.D314Y(2)|p.D312Y(2)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATCTGGGGATCATTTGCTCTT	0.333000													42	192					1.41401e-22	1.67862e-22	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167717596	167717596	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:167717596G>T	ENST00000230256.3	+	5	990	c.815G>T	c.(814-816)gGa>gTa	p.G272V	UNC93A_ENST00000366829.2_Missense_Mutation_p.G230V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	272						integral to membrane|plasma membrane		p.G272V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCAGCAAGGATTCCTCTCC	0.512000													54	222					1.44317e-28	2.05829e-28	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991282	21991282	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:21991282A>G	ENST00000594012.1	-	7	2053	c.1539T>C	c.(1537-1539)ttT>ttC	p.F513F	ZNF43_ENST00000354959.4_Silent_p.F519F|ZNF43_ENST00000598381.1_Silent_p.F513F|ZNF43_ENST00000595461.1_Silent_p.F513F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F519F(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACCACTTAAAAGCTTTGC	0.368000													25	51					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549183	226549183	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:226549183T>C	ENST00000366794.5	-	23	3166	c.3023A>G	c.(3022-3024)aAt>aGt	p.N1008S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1008	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.N1008S(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGTCTTAAAATTGAATTTCAG	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					16	44					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101712232	101712232	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:101712232C>T	ENST00000251127.6	-	42	4924	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1615						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E1615K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGTGGTCTCGATGCTGGGC	0.572000													29	122					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26570005	26570005	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:26570005G>C	ENST00000376261.3	+	12	1728	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	GAD2_ENST00000259271.3_Missense_Mutation_p.V409L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	409					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V409L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGCTCTCCTGGTTAGAGAAGA	0.488000													29	132					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792844	131792844	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:131792844G>A	ENST00000286355.5	-	18	5640	c.3548C>T	c.(3547-3549)cCa>cTa	p.P1183L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P1052L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P1183L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGTCTTCTTGGGGGCAAGAT	0.512000										HNSCC(32;0.087)			38	138					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097855	175097855	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:175097855C>G	ENST00000239462.4	+	15	3416	c.3303C>G	c.(3301-3303)gaC>gaG	p.D1101E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1101	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D1101E(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTACTGTGACATGGAAACGG	0.602000													34	187					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882533	64882533	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882533C>T	ENST00000279263.7	+	7	1034	c.872C>T	c.(871-873)tCt>tTt	p.S291F	TM7SF2_ENST00000345348.5_Missense_Mutation_p.S291F|TM7SF2_ENST00000540748.1_Missense_Mutation_p.S175F	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	291					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.S291F(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCATGGCCTCTGTCATCTGC	0.612000													40	177					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:132641792C>T	ENST00000367963.3	-	9	1459	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_ENST00000336749.3_Silent_p.T379T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	447					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.T379T(2)|p.T447T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299000													3	20					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129154963	129154963	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:129154963C>T	ENST00000540052.1	+	4	3489	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1149W(2)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCACAGTGCCGGAAGCTGCC	0.547000													15	110					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090777	238090777	+	RNA	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:238090777G>A	ENST00000450451.1	+	0	2283					NR_027247.2																						ACATCAGGGAGAAGCTGTGCT	0.602000													7	17					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66880001	66880001	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:66880001A>G	ENST00000269080.2	-	27	3655	c.3518T>C	c.(3517-3519)tTt>tCt	p.F1173S	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1213S|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1213S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1173						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1173S(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTAAAAAGAAAAATGATAAA	0.289000													3	8					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252962	37252962	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:37252962G>T	ENST00000310758.4	-	12	1579	c.932C>A	c.(931-933)aCc>aAc	p.T311N	ELMO1_ENST00000448602.1_Missense_Mutation_p.T311N|ELMO1_ENST00000442504.1_Missense_Mutation_p.T311N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	311					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T311N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTCCATTTTGGTCATCATCCT	0.502000													24	69					3.6726e-16	4.7689e-16	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731313	21731313	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:21731313G>C	ENST00000584755.1	+	2	1012	c.615G>C	c.(613-615)gcG>gcC	p.A205A	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.A205A(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCGGTACTCTTTC	0.517000													37	97					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305214	23305214	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:23305214C>A	ENST00000358689.4	-	4	626	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.V131L|ENTPD4_ENST00000417069.2_Missense_Mutation_p.V131L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	131					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.V131L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTCATGACCACTGGCTTTCGG	0.448000													33	165					2.42023e-17	3.16632e-17	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110827061	110827061	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:110827061A>T	ENST00000375820.4	-	38	3355	c.3234T>A	c.(3232-3234)ccT>ccA	p.P1078P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1078	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P1078P(2)|p.P721P(2)		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)			CCTTCTCTCCAGGGCTTCCTG	0.517000													110	353					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186473	239186473	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:239186473G>A	ENST00000254657.3	-	2	384	c.105C>T	c.(103-105)agC>agT	p.S35S	PER2_ENST00000440245.1_Silent_p.S35S|PER2_ENST00000355768.2_Silent_p.S35S|PER2_ENST00000254658.3_Silent_p.S35S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	35					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.S35S(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGCCACTGCTCATGTCCA	0.627000													27	138					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323436	31323436	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:31323436T>A	ENST00000269197.5	+	12	3624	c.3624T>A	c.(3622-3624)ccT>ccA	p.P1208P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P915P(2)|p.P1208P(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAACATACCTGTGTCACATT	0.398000													12	59					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60637432	60637432	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:60637432A>T	ENST00000582809.1	+	11	1032	c.329A>T	c.(328-330)tAc>tTc	p.Y110F	TLK2_ENST00000542523.1_Missense_Mutation_p.Y227F|TLK2_ENST00000346027.5_Missense_Mutation_p.Y259F|TLK2_ENST00000343388.7_Missense_Mutation_p.Y227F|TLK2_ENST00000326270.9_Missense_Mutation_p.Y259F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	259					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Y259F(4)|p.Y258F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTAGAGAAATACAAGGAACGA	0.348000													7	52					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802159	34802159	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:34802159C>T	ENST00000192788.5	+	5	675	c.504C>T	c.(502-504)cgC>cgT	p.R168R	UHRF1BP1_ENST00000452449.2_Silent_p.R168R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	168								p.R168R(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTTACCCGCATCACTGACC	0.502000													29	79					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608145	46608145	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:46608145C>A	ENST00000239174.6	-	1	214	c.122G>T	c.(121-123)aGc>aTc	p.S41I	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41I	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTTGCATAGCTGTCAACCGC	0.662000													51	173					9.72345e-25	1.36442e-24	1	1	0
ORC2	4999	broad.mit.edu	37	2	201814323	201814323	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:201814323A>C	ENST00000234296.2	-	5	531	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	94					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.V94V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAAAAGAATAAACTTTATTTC	0.284000													8	37					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73328799	73328799	+	Missense_Mutation	SNP	A	A	C	rs150762903		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:73328799A>C	ENST00000392562.1	-	3	940	c.158T>G	c.(157-159)aTa>aGa	p.I53R	GRB2_ENST00000392563.1_Missense_Mutation_p.I53R|GRB2_ENST00000316804.5_Missense_Mutation_p.I53R|GRB2_ENST00000316615.5_Missense_Mutation_p.I53R|GRB2_ENST00000578961.1_Missense_Mutation_p.I53R|GRB2_ENST00000392564.1_Missense_Mutation_p.I53R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	53	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.I53R(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTTCATTTCTATGTAGTTCTT	0.398000													13	62					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994591	72994591	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:72994591G>A	ENST00000308744.6	+	2	687	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	NPFFR2_ENST00000395999.1_Missense_Mutation_p.G98S|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G95S|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	197					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.G197S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTACTAGTTGGCATATTCTG	0.358000													29	121					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359612	51359612	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:51359612G>A	ENST00000360617.3	+	2	163	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	KLK3_ENST00000595952.1_Missense_Mutation_p.V55M|KLK3_ENST00000597483.1_Missense_Mutation_p.V55M|KLK3_ENST00000593997.1_Missense_Mutation_p.V55M|KLK3_ENST00000326003.2_Missense_Mutation_p.V55M			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	55	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.V55M(4)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGGTGTTCTGGTGCACCCCCA	0.632000													63	219					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855612	12855612	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:12855612T>A	ENST00000332296.7	+	4	995	c.892T>A	c.(892-894)Ttg>Atg	p.L298M	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L53M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	298								p.L298M(4)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CTTGGAGAACTTGGAATTAAC	0.463000													36	138					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663203	99663203	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:99663203T>A	ENST00000373034.4	-	1	2068	c.393A>T	c.(391-393)gcA>gcT	p.A131A	PCDH19_ENST00000420881.2_Silent_p.A131A|PCDH19_ENST00000255531.7_Silent_p.A131A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	131	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A131A(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGATCTGTGCTGCCGGGAAAC	0.577000													74	333					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421330	116421330	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:116421330G>C	ENST00000281928.3	-	21	4753	c.4547C>G	c.(4546-4548)aCt>aGt	p.T1516S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1516					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.T1516S(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCTGCAGAGTGGCTAAATA	0.473000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	45					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918921	92918921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:92918921C>A	ENST00000326402.4	-	2	245	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	39					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	p.E39*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTCATGTTCTTCATCTGAT	0.348000													8	17					0.000157383	0.000170091	1	1	0
ERMAP	114625	broad.mit.edu	37	1	43296552	43296552	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:43296552C>T	ENST00000372517.2	+	4	443	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.R67W|ERMAP_ENST00000487556.1_Intron	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	67	Ig-like V-type.					integral to membrane|plasma membrane		p.R67W(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGTGGCTGCGGTCCCCATT	0.632000													9	38					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60897373	60897373	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:60897373G>A	ENST00000252999.3	-	47	6364	c.6298C>T	c.(6298-6300)Cgc>Tgc	p.R2100C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2100	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R2100C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCACACTCGCGGCACTGGGGT	0.711000													3	25					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76825355	76825355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76825355G>A	ENST00000278559.3	+	5	763	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.G192S|CAPN5_ENST00000456580.2_Missense_Mutation_p.G232S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	192	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.G192S(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTCACGGGTGGTGTTTCTGA	0.567000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	162	527					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383369	37383369	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:37383369C>A	ENST00000520965.1	-	6	633	c.567G>T	c.(565-567)ctG>ctT	p.L189L	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Silent_p.L108L	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L108L(2)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTGATTCCAGATCTGAAA	0.313000													5	38					3.59834e-05	3.98796e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62293403	62293403	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:62293403T>A	ENST00000378024.4	-	5	8760	c.8486A>T	c.(8485-8487)cAt>cTt	p.H2829L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2829					nervous system development	nucleus	protein binding	p.H2829L(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTTAAAATGCATCTCTGG	0.428000													70	170					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677924	3677924	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:3677924C>T	ENST00000294600.2	+	5	875	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	264								p.A264V(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAGAGGGAGGCCCTGAAGATG	0.587000													39	148					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	20					0.0135373	0.0141047	1	1	0
MT-ND1	4535	broad.mit.edu	37	MT	3354	3354	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrM:3354A>T	ENST00000361390.2	+	1	48	c.48A>T	c.(46-48)gcA>gcT	p.16_16insA						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						ATTCTAATCGCAATGGCATTC	0.438000													13	17					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608146	46608146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:46608146T>A	ENST00000239174.6	-	1	213	c.121A>T	c.(121-123)Agc>Tgc	p.S41C	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTGCATAGCTGTCAACCGCC	0.662000													51	174					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465695	41465695	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:41465695C>T	ENST00000400454.1	-	21	4280	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1268	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.G1268E(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCCTCTTCCGGCTGAAGT	0.488000													11	30					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:77147419G>A	ENST00000461745.1	+	2	1216	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R|ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	106	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G122R(2)|p.G106R(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTGATGAAGGAAGCTACGT	0.517000													27	92					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962330	69962330	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:69962330C>T	ENST00000305231.7	+	1	138	c.92C>T	c.(91-93)gCa>gTa	p.A31V	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.A31V	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	31					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A31V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTGGGCAGCAGAATACAGC	0.428000													15	56					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													5	35					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408255	107408255	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:107408255G>T	ENST00000334504.7	-	39	4055	c.3822C>A	c.(3820-3822)ccC>ccA	p.P1274P	COL4A6_ENST00000372216.4_Silent_p.P1275P|COL4A6_ENST00000545689.1_Silent_p.P1250P|COL4A6_ENST00000394872.2_Silent_p.P1275P|COL4A6_ENST00000538570.1_Silent_p.P1250P	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1275	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1274P(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGGTCCAGCGGGGCCTGGGC	0.632000									Alport syndrome with Diffuse Leiomyomatosis				18	111					3.73194e-20	5.15363e-20	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39868522	39868522	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:39868522C>T	ENST00000303538.8	-	23	3140	c.2601G>A	c.(2599-2601)atG>atA	p.M867I		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	867					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.M867I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CACTAACCAACATCGCTGATA	0.393000													8	37					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388511	90388511	+	RNA	SNP	C	C	T	rs138191329	byFrequency	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:90388511C>T	ENST00000354530.2	+	0	377					NR_027917.1													p.P126L(2)									AGTATGTTGCCGACAATGGAG	0.458000													33	57					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175617	57175617	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:57175617T>C	ENST00000537055.2	-	2	1181	c.950A>G	c.(949-951)cAg>cGg	p.Q317R		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.Q339R(2)|p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAGGCGCTCTGGCTGAAGAG	0.701000													6	19					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													6	49					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039011	31039011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:31039011G>T	ENST00000355537.3	+	4	2632	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A829S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCAAGCAAAGCTTCTCTGTT	0.577000													50	193					4.29476e-34	6.27973e-34	1	1	0
SP2	6668	broad.mit.edu	37	17	46002417	46002417	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:46002417G>A	ENST00000376741.4	+	5	1642	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	502					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAGCGGCGCCGCATGGCCTGC	0.627000													4	113					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	35					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565414	38565414	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:38565414C>T	ENST00000287675.5	+	6	764	c.668C>T	c.(667-669)gCa>gTa	p.A223V	EXOG_ENST00000358249.2_Missense_Mutation_p.A83V|EXOG_ENST00000422077.2_Missense_Mutation_p.A173V	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	223						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.A223V(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GACAACGTGGCAGTCCCCTCA	0.453000													20	82					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2975964	2975964	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:2975964A>G	ENST00000602557.1	-	43	6945	c.6390T>C	c.(6388-6390)caT>caC	p.H2130H	CSMD1_ENST00000400186.3_Silent_p.H2130H|CSMD1_ENST00000542608.1_Silent_p.H2129H|CSMD1_ENST00000537824.1_Silent_p.H2129H|CSMD1_ENST00000602723.1_Silent_p.H2130H|CSMD1_ENST00000520002.1_Silent_p.H2130H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2130	Sushi 12.					integral to membrane		p.H1858H(2)|p.H2129H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGATCCCATGCTGACAAG	0.443000													19	75					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	430712	430712	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:430712C>A	ENST00000264554.6	-	9	1145	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	382	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		p.L743L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCCATGGCAGGCTGCAGG	0.637000													5	48					0.014758	0.0152851	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54784148	54784148	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:54784148C>A	ENST00000218436.6	-	8	2388	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	787	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G787C(2)									GATGGAGCACCAGGTTTGGAA	0.547000													58	195					7.10663e-31	1.02194e-30	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53418997	53418997	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:53418997C>A	ENST00000377942.3	-	3	3114	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G874W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971W(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGTTGGGCCCGCTGCAGGAT	0.577000													26	121					9.86323e-18	1.30015e-17	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140261961	140261961	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:140261961C>T	ENST00000289272.2	+	1	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P36P|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P36P(3)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGTCCCCGAGGAAGCAA	0.657000													103	314					0	0	1	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:8095990C>G	ENST00000523017.1	-	0	608																											CCAGGAGCCCCGAGACCTGCA	0.647000													4	9					0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731759	53731759	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:53731759C>A	ENST00000248706.3	+	4	752	c.534C>A	c.(532-534)ttC>ttA	p.F178L	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	178	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.F178L(2)		autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GCTGCTCATTCTATGAAGTGT	0.507000													109	419					6.64951e-56	9.80521e-56	1	1	0
TM7SF2	7108	broad.mit.edu	37	11	64882511	64882511	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882511C>A	ENST00000279263.7	+	7	1012	c.850C>A	c.(850-852)Ccc>Acc	p.P284T	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284T|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCCGCAGCCCCTGGGGTT	0.612000													19	208					1.00905e-13	1.26312e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237819148	237819148	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:237819148G>C	ENST00000366574.2	+	53	8310	c.7993G>C	c.(7993-7995)Gca>Cca	p.A2665P	RYR2_ENST00000542537.1_Missense_Mutation_p.A2649P|RYR2_ENST00000360064.6_Missense_Mutation_p.A2663P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2665	4 X approximate repeats.|Modulator (Potential).				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	p.A2663P(2)		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)			TTTCAAACTGGCACTGCCTTG	0.408000													5	8					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330766	39330766	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:39330766A>G	ENST00000594769.1	-	1	52	c.53T>C	c.(52-54)aTg>aCg	p.M18T	HNRNPL_ENST00000600873.1_Silent_p.N268N|HNRNPL_ENST00000221419.5_Silent_p.N401N														p.N401N(2)|p.N268N(2)									AGCAGAAGACATTGAAGACTC	0.572000													44	156					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865249	6865249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:6865249C>G	ENST00000307659.5	+	7	3595	c.3140C>G	c.(3139-3141)cCa>cGa	p.P1047R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1047R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1047							ATP binding	p.P1047R(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTAAGCAATCCATTTTCACAA	0.383000													23	70					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127818229	127818229	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:127818229T>A	ENST00000336505.5	-	3	214	c.156A>T	c.(154-156)ccA>ccT	p.P52P	SCAI_ENST00000373549.4_Silent_p.P75P	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	52	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.P75P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TCTCTCCCTGTGGGATATCAT	0.378000													16	28					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178571	31178571	+	Silent	SNP	G	G	T	rs145356432		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:31178571G>T	ENST00000349752.5	-	6	1206	c.567C>A	c.(565-567)atC>atA	p.I189I	GALNT14_ENST00000420311.2_Silent_p.I154I|GALNT14_ENST00000406653.1_Silent_p.I169I|GALNT14_ENST00000324589.5_Silent_p.I194I|GALNT14_ENST00000356174.3_Silent_p.I156I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	189	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I189I(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTGGGCGATGTCAGCGC	0.602000													33	134					6.00712e-18	7.97893e-18	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139407481	139407481	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:139407481G>A	ENST00000277541.6	-	15	2534	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	820	EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P820L(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTGTGTAGGGCAGCAGGCA	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			38	74					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973554	29973554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:29973554G>T	ENST00000378993.1	+	11	2381	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.E570*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	570	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E570*(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATTACACATGAGCAGGCTTT	0.488000													15	53					6.81908e-15	8.72441e-15	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105833976	105833976	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:105833976G>A	ENST00000353479.5	-	6	635	c.345C>T	c.(343-345)ggC>ggT	p.G115G	COL17A1_ENST00000393211.3_Silent_p.G115G|COL17A1_ENST00000369733.3_Silent_p.G115G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	115	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G115G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAAGAGTTGCCACTGGAGC	0.478000													35	178					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:35922941G>T	ENST00000490799.1	-	17	2573	c.2220C>A	c.(2218-2220)gtC>gtA	p.V740V	SLC26A8_ENST00000394602.2_Silent_p.V635V|SLC26A8_ENST00000355574.2_Silent_p.V740V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	740	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512000													45	229					9.9998e-32	1.44997e-31	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244104	42244104	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:42244104G>T	ENST00000327628.5	+	13	2004	c.1604G>T	c.(1603-1605)aGc>aTc	p.S535I	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.S461I|TRAK1_ENST00000396175.1_Missense_Mutation_p.S477I|TRAK1_ENST00000341421.3_Missense_Mutation_p.S477I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	535					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.S477I(4)|p.S535I(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGCTGCGCAGCGGCTCCCTC	0.637000													18	103					9.95505e-16	1.2831e-15	1	1	0
RELB	5971	broad.mit.edu	37	19	45515272	45515272	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:45515272G>C	ENST00000221452.8	+	4	392	c.242G>C	c.(241-243)cGc>cCc	p.R81P	RELB_ENST00000505236.1_Missense_Mutation_p.R78P|RELB_ENST00000540120.1_Missense_Mutation_p.R81P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	81						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R81P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGCTGCCACGCCTGGTGTCT	0.711000													5	13					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:31876897G>T	ENST00000396184.3	-	12	1304	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	PDE1C_ENST00000396191.1_Missense_Mutation_p.A367D|PDE1C_ENST00000396193.1_Missense_Mutation_p.A427D|PDE1C_ENST00000396182.2_Missense_Mutation_p.A367D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A367D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A367D(4)|p.A427D(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAGGGATAAGGCTTTTGGCTT	0.408000													9	33					9.70103e-10	1.17221e-09	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047658	46047658	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:46047658T>A	ENST00000397911.3	+	1	619	c.570T>A	c.(568-570)ccT>ccA	p.P190P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	190	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.P190P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGTAAGCCTGTCTGCTGCA	0.592000													177	690					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117098010	117098010	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:117098010G>C	ENST00000320934.3	-	5	1262	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	211	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	p.S211C(2)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGGTCATTAGAGTTGAGGTC	0.557000			T	IGH@	MLCLS								45	202					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22587979	22587979	+	RNA	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:22587979T>A	ENST00000550753.1	+	0	2454					NR_003676.2																						CCCTGCTGGTTCTAATGGCCA	0.527000													14	143					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371718	76371718	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76371718C>T	ENST00000407242.2	-	3	1161	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	LRRC32_ENST00000260061.5_Missense_Mutation_p.G307R|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.G307R	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	307						integral to plasma membrane		p.G307R(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGCATTCCCGCTGGGGGCT	0.622000													21	52					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025069	84025069	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:84025069C>T	ENST00000369705.3	-	6	780	c.664G>A	c.(664-666)Gat>Aat	p.D222N	ME1_ENST00000541327.1_Missense_Mutation_p.D56N|ME1_ENST00000543031.1_Missense_Mutation_p.D147N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	222					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D222N(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAAAAATCATCATATTCAGAA	0.299000													5	27					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23985107	23985107	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:23985107C>A	ENST00000238789.5	-	24	3709	c.3366G>T	c.(3364-3366)gtG>gtT	p.V1122V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1122							ATP binding|nucleoside-triphosphatase activity	p.V1122V(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGTGCCACACATCCATTG	0.393000													3	31					0.115264	0.117286	1	1	0
PZP	5858	broad.mit.edu	37	12	9303303	9303303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:9303303G>T	ENST00000261336.2	-	34	4349	c.4321C>A	c.(4321-4323)Caa>Aaa	p.Q1441K	PZP_ENST00000381997.2_Missense_Mutation_p.Q1227K	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.Q1441K(2)|p.Q1227K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGATGTCTTGCAGAACCATG	0.403000													7	30					0.000274275	0.000294592	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:55143640C>A	ENST00000396331.1	+	6	970	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	LILRB1_ENST00000418536.2_Missense_Mutation_p.P205T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGAACTCTCCCTATGAGTG	0.607000										HNSCC(37;0.09)			51	203					5.82388e-19	7.91684e-19	1	1	0
CAPN5	726	broad.mit.edu	37	11	76829344	76829344	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76829344G>C	ENST00000278559.3	+	8	1302	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.Q371H|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q411H	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	371	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.Q371H(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCGCGACAGAACCGCGGTG	0.642000													13	51					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230372	77230372	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:77230372G>T	ENST00000237642.6	+	2	1040	c.296G>T	c.(295-297)aGa>aTa	p.R99I	FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1												p.R99I(2)									GCATCATGGAGATTGCAGAAT	0.418000													30	85					1.75199e-13	2.17747e-13	1	1	0
MT-ND4	4538	broad.mit.edu	37	MT	11711	11711	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrM:11711G>A	ENST00000361381.2	+	1	952	c.952G>A	c.(952-954)Gcc>Acc	p.318_318insT						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TTCTCATAATCGCCCACGGAC	0.483000													4	34					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805391	54805391	+	Missense_Mutation	SNP	G	G	T	rs146327371		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:54805391G>T	ENST00000306858.7	+	5	1738	c.1622G>T	c.(1621-1623)cGt>cTt	p.R541L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCGGCTTCGTTCCTCTTTA	0.418000													8	44					7.48243e-07	8.79691e-07	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1629958	1629958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:1629958G>A	ENST00000381580.1	-	2	250	c.71C>T	c.(70-72)tCc>tTc	p.S24F	SIRPG_ENST00000216927.4_Missense_Mutation_p.S57F|SIRPG_ENST00000303415.3_Missense_Mutation_p.S57F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S57F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S57F			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	57					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.S57F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGAAGCAGGGAGGTCACAGT	0.537000													23	126					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64879032	64879032	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64879032G>A	ENST00000279281.3	+	10	2414	c.2322G>A	c.(2320-2322)gtG>gtA	p.V774V	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)									p.V774V(2)									AGCCCAGTGTGGTTGAGGTCA	0.652000													19	52					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486301	180486301	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:180486301C>A	ENST00000327705.9	+	11	1278	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	BTNL9_ENST00000376842.3_Missense_Mutation_p.S350R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	349	B30.2/SPRY.					integral to membrane		p.S349R(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAAGAGCGTGTCTTccc	0.741000													4	9					0.0215528	0.0221904	1	1	0
TYW1B	441250	broad.mit.edu	37	7	72178676	72178676	+	RNA	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:72178676T>C	ENST00000438125.1	-	0	886							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GGGTACATTATTGGTTCTCCC	0.473000													16	32					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23547389	23547389	+	Silent	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:23547389C>G	ENST00000262710.1	-	8	2595	c.2268G>C	c.(2266-2268)ctG>ctC	p.L756L	ACIN1_ENST00000457657.1_Silent_p.L716L|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Silent_p.L698L|ACIN1_ENST00000555053.1_Silent_p.L756L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	756					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.L756L(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGATTCTGGCAGATGAGAGG	0.507000													53	140					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13421115	13421115	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:13421115C>A	ENST00000254508.5	-	7	1006	c.924G>T	c.(922-924)tcG>tcT	p.S308S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	308					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGTGACCATCGACGTGTCCT	0.607000													4	191					0.150653	0.152405	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114388965	114388965	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:114388965A>T	ENST00000343508.3	-	2	229		c.e2+1		CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(2)		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						CAGGATATCTACCTGAGGCTG	0.552000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	111					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603225	26603225	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:26603225A>G	ENST00000252992.4	+	13	2233	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	CEP85_ENST00000451429.2_Missense_Mutation_p.N650S|CEP85_ENST00000469609.1_3'UTR	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	701						centrosome|nucleolus|spindle pole		p.N701S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGACCCCAATCTCTCCCTG	0.592000													13	62					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826613	76826613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76826613G>A	ENST00000278559.3	+	6	1061	c.872G>A	c.(871-873)tGg>tAg	p.W291*	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W291*|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W331*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	291	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.W291*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GAGCGGGAGTGGAACGGGCCC	0.652000													7	30					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44891010	44891010	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:44891010G>C	ENST00000261866.7	-	22	3727	c.3711C>G	c.(3709-3711)gcC>gcG	p.A1237A	SPG11_ENST00000535302.2_Silent_p.A1237A|SPG11_ENST00000427534.2_Silent_p.A1237A|SPG11_ENST00000558319.1_Silent_p.A1237A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1237					cell death	cytosol|integral to membrane|nucleus	protein binding	p.A1237A(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTATAACATAGGCTTCATTGC	0.408000													18	49					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183867	89183867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:89183867G>C	ENST00000295908.6	-	7	1388	c.999C>G	c.(997-999)taC>taG	p.Y333*		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	333	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.Y333*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CCTCAGTACCGTACTGTATTG	0.418000													12	43					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037127	80037127	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:80037127G>A	ENST00000306749.2	-	43	7646	c.7428C>T	c.(7426-7428)gtC>gtT	p.V2476V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2476	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.V2476V(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCCTCGATGACGTGGACGG	0.662000													39	151					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671907	45671907	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:45671907G>T	ENST00000308064.2	-	4	1237	c.567C>A	c.(565-567)aaC>aaA	p.N189K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	189					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.N189K(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGGTCAGGTTGAGTAGCC	0.721000													13	62					7.93312e-07	9.26418e-07	1	1	0
DSG1	1828	broad.mit.edu	37	18	28908187	28908187	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:28908187A>T	ENST00000257192.4	+	4	464	c.252A>T	c.(250-252)acA>acT	p.T84T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	84	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.T84T(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAAGTTACATACCGCATCT	0.373000													8	34					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810712	53810712	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53810712T>C	ENST00000288139.3	+	37	4623	c.4505T>C	c.(4504-4506)tTa>tCa	p.L1502S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1482S|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L374S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1467S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1482					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1502S(2)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTCACCATTTAGATGAATTC	0.403000													42	166					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76830106	76830106	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76830106G>A	ENST00000278559.3	+	9	1387	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.E400K|CAPN5_ENST00000456580.2_Missense_Mutation_p.E440K	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	400	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.E400K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCCAGAAGATGAAGTCCTGAT	0.577000													14	36					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39479863	39479863	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:39479863C>A	ENST00000407997.3	+	5	1066	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.Q237K|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.Q237K(4)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTGCTGAACCAGCGCAGGGG	0.572000													31	113					4.31634e-10	5.25205e-10	1	1	0
PRNT	149830	broad.mit.edu	37	20	4713162	4713162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:4713162A>T	ENST00000326539.2	-	2	1098	c.161T>A	c.(160-162)tTa>tAa	p.L54*	PRNT_ENST00000423718.2_Nonsense_Mutation_p.L54*|PRNT_ENST00000418528.1_Nonsense_Mutation_p.L54*														p.L54*(4)		endometrium(2)|lung(5)	7						cagaaaggataatggccatgc	0.483000													6	31					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554286	41554286	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:41554286A>T	ENST00000396942.1	-	25	2726	c.2643T>A	c.(2641-2643)tcT>tcA	p.S881S	ANK1_ENST00000265709.8_Silent_p.S922S|ANK1_ENST00000396945.1_Silent_p.S881S|ANK1_ENST00000379758.2_Silent_p.S881S|ANK1_ENST00000347528.4_Silent_p.S881S|ANK1_ENST00000289734.7_Silent_p.S881S|ANK1_ENST00000352337.4_Silent_p.S881S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	881					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S881S(2)|p.S922S(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATACTCTTTAGATGCCTGAG	0.632000													18	61					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40054003	40054003	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:40054003G>T	ENST00000373233.3	-	29	4338	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1387					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P1387P(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAACTGGCCAGGGCGATTTGT	0.512000													14	36					4.7546e-09	5.70552e-09	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125877379	125877379	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:125877379C>A	ENST00000393434.2	-	3	580	c.231G>T	c.(229-231)ggG>ggT	p.G77G	ALDH1L1_ENST00000452905.2_Silent_p.G77G|ALDH1L1_ENST00000393431.2_Silent_p.G77G|ALDH1L1_ENST00000472186.1_Silent_p.G77G|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000273450.3_Silent_p.G87G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	77	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G77G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGCTCGGCCCCCAAAGCCT	0.567000													33	143					9.21846e-06	1.04837e-05	1	1	0
MCPH1	79648	broad.mit.edu	37	8	6479157	6479157	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:6479157C>A	ENST00000344683.5	+	13	2473	c.2397C>A	c.(2395-2397)ccC>ccA	p.P799P	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	799	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCATCGGGCCCTACAGCGGAA	0.587000													4	207					1	1	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18906919	18906919	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:18906919G>A	ENST00000388995.6	-	2	659	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R146W|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R146W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	146								p.R146W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACGCTAGCCCGGGTCACGCCG	0.677000													16	48					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919343	54919343	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:54919343G>T	ENST00000474759.1	+	22	1996	c.1948G>T	c.(1948-1950)Gca>Tca	p.A650S	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A556S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A650S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A650S|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	650						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A650S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGTGTCCTTGGCAGATGAATG	0.493000													17	83					1.87028e-06	2.16953e-06	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789732	133789732	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:133789732G>A	ENST00000321016.8	-	18	4118	c.3888C>T	c.(3886-3888)gaC>gaT	p.D1296D	IGSF9B_ENST00000533871.2_Silent_p.D1296D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1296	Pro-rich.					integral to membrane|plasma membrane		p.D1296D(1)|p.D752D(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCCAAGCTGTCCCCAGGCC	0.677000													11	45					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34648858	34648858	+	Missense_Mutation	SNP	C	C	T	rs111033762		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:34648858C>T	ENST00000378842.3	+	8	829	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.R154W	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	263			Missing (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	p.R263W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCATGTGCGGCGGCTACCTGA	0.607000									Galactosemia				7	108					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:154858045G>T	ENST00000460393.1	+	10	1041	c.921G>T	c.(919-921)caG>caT	p.Q307H	MME_ENST00000360490.2_Missense_Mutation_p.Q307H|MME_ENST00000492661.1_Missense_Mutation_p.Q307H|MME_ENST00000493237.1_Missense_Mutation_p.Q307H|MME_ENST00000462745.1_Missense_Mutation_p.Q307H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q307H(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTGGCCCAGATCCAAAATA	0.323000													3	18					1.024e-07	1.22038e-07	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885786	88885786	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:88885786C>A	ENST00000319675.3	-	1	510	c.414G>T	c.(412-414)ttG>ttT	p.L138F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	138								p.L138F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGGGAATCCAAGTGATTCA	0.562000													46	170					6.68952e-21	9.31181e-21	1	1	0
TBX18	9096	broad.mit.edu	37	6	85473649	85473649	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:85473649C>A	ENST00000369663.5	-	1	588	c.251G>T	c.(250-252)gGg>gTg	p.G84V		NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	84					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G84V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCGAGCCGGCCCAGACGTCGC	0.716000													3	7					3.59834e-05	3.98796e-05	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248028173	248028173	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:248028173C>A	ENST00000366481.3	+	3	731	c.683C>A	c.(682-684)gCc>gAc	p.A228D		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	228						intracellular	zinc ion binding	p.A228D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGCAAGGCCCTGAAGGAG	0.682000													7	38					0.0477658	0.0488897	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120008919	120008919	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:120008919G>T	ENST00000371311.3	-	1	860	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	202								p.V202V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CAGGCTCTGGGACCGACGCGG	0.706000													48	175					5.57489e-27	7.88643e-27	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48700726	48700726	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:48700726G>A	ENST00000557021.1	-	7	1066	c.906C>T	c.(904-906)ccC>ccT	p.P302P	UBE2V1_ENST00000420027.2_Silent_p.P35P|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.P302P|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000371674.3_Silent_p.P79P|UBE2V1_ENST00000340309.3_Silent_p.P102P|UBE2V1_ENST00000371677.3_Silent_p.P102P|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Silent_p.P35P	NM_199203.2	NP_954673.1			transmembrane protein 189									p.P102P(2)|p.P302P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTACAAAGGGGGGTGCTTCTG	0.358000													47	117					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375459	65375459	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:65375459C>T	ENST00000309100.3	-	3	1488	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	MAP3K11_ENST00000530153.1_Missense_Mutation_p.A78T	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	335	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.A335T(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TTGTTAACAGCTACGCCATAG	0.607000													31	114					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	20					0.0135373	0.0141047	1	1	0
CAPN5	726	broad.mit.edu	37	11	76826625	76826625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76826625G>A	ENST00000278559.3	+	6	1073	c.884G>A	c.(883-885)tGg>tAg	p.W295*	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W295*|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W335*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	295	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.W295*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGGGCCCTGGAGTGACACG	0.662000													5	26					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185520	127185520	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:127185520G>C	ENST00000371124.3	-	1	862	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	222						cytoplasm|cytoskeleton		p.I222M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCTCCAAGGCGATGTAGCACA	0.527000													48	219					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003109	122003109	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:122003109C>A	ENST00000498619.1	+	7	2776	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	CASR_ENST00000490131.1_Missense_Mutation_p.L770I|CASR_ENST00000296154.5_Missense_Mutation_p.L770I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	770					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGGGCTCCCTCATGGCCCT	0.582000													20	82					2.21704e-12	2.71665e-12	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	43					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221917	44221917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:44221917C>T	ENST00000330884.4	-	7	939	c.819G>A	c.(817-819)atG>atA	p.M273I	SULT4A1_ENST00000540422.1_Missense_Mutation_p.M160I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.M273I(2)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CACACTTTCCCATCTTCTGTT	0.418000													31	168					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826513	76826513	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:76826513G>A	ENST00000278559.3	+	6	961	c.772G>A	c.(772-774)Gat>Aat	p.D258N	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D258N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D298N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	258	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.D258N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCGTCACTGATGTGCGCAA	0.642000													19	53					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839373	233839373	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:233839373C>T	ENST00000264051.3	-	2	506	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	76	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.K76K(4)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTCTCTGGCCTTGGCTTTGC	0.512000													86	369					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388726	80388726	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:80388726A>C	ENST00000265080.4	+	10	1564	c.1497A>C	c.(1495-1497)acA>acC	p.T499T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	499	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.T499T(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTATTTACAAAACACTTTT	0.388000													20	62					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157209	154157209	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:154157209G>T	ENST00000360256.4	-	14	5056	c.4856C>A	c.(4855-4857)tCc>tAc	p.S1619Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1619	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S1619Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCGTTCAGGGACAAAATGGT	0.408000													51	193					5.82388e-19	7.91684e-19	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:20404500C>A	ENST00000285600.4	+	1	734	c.675C>A	c.(673-675)gtC>gtA	p.V225V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATCGGTGTCCGATGCAGGT	0.418000													12	58					3.07112e-06	3.51562e-06	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935217	30935217	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:30935217G>T	ENST00000355537.3	+	2	895	c.748G>T	c.(748-750)Gac>Tac	p.D250Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D250Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCGTTCCCGACGTGGCCCA	0.746000													6	24					8.12818e-05	8.89499e-05	1	1	0
DAW1	164781	broad.mit.edu	37	2	228750068	228750068	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:228750068A>T	ENST00000373666.2	+	2	678	c.40_splice	c.e2-1	p.G14_splice	DAW1_ENST00000545118.1_5'UTR|DAW1_ENST00000309931.2_Splice_Site_p.G14_splice					dynein assembly factor with WDR repeat domains 1									p.G14G(2)									TTTCTATAGGAATTATGTTGG	0.303000													12	38					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882512	64882512	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:64882512C>A	ENST00000279263.7	+	7	1013	c.851C>A	c.(850-852)cCc>cAc	p.P284H	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284H|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168H	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCGCAGCCCCTGGGGTTG	0.612000													19	207					1.00905e-13	1.26312e-13	1	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													6	56					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89931018	89931018	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:89931018G>A	ENST00000405460.2	+	10	2023	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	643					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V643I(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTTTACTGGTTACTCCAGC	0.378000													14	41					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110570411	110570411	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:110570411A>G	ENST00000242591.5	+	5	995	c.489A>G	c.(487-489)atA>atG	p.I163M	IFT81_ENST00000361948.4_Missense_Mutation_p.I163M|IFT81_ENST00000552912.1_Missense_Mutation_p.I163M	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	163					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.I163M(4)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTCAAGATATCTGGATTTT	0.259000													9	14					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:55563901G>T	ENST00000335605.1	+	1	870	c.870G>T	c.(868-870)ctG>ctT	p.L290L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L290L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408000													8	25					0.000442599	0.000472468	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	15					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922448	108922448	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:108922448G>C	ENST00000375887.4	+	1	383	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V69L|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V69L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	69					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	p.V69L(2)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TTTCTACCAGGTGGCCGCCCT	0.662000													79	192					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220371	1220371	+	Splice_Site	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:1220371G>T	ENST00000326873.7	+	4	1637		c.e4-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(5)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCGCAGGTACTTCTGT	0.652000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	13					1	1	1	1	0
BCL2	596	broad.mit.edu	37	18	60985890	60985890	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:60985890C>G	ENST00000398117.1	-	1	1471	c.10G>C	c.(10-12)Gct>Cct	p.A4P	BCL2_ENST00000589955.1_Missense_Mutation_p.A4P|BCL2_ENST00000444484.1_Missense_Mutation_p.A4P|BCL2_ENST00000333681.4_Missense_Mutation_p.A4P	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	4					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.A4P(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTTCTCCCAGCGTGCGCCATC	0.587000			T	IGH@	"""NHL, CLL"""								25	124					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002719	3002719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:3002719G>T	ENST00000216877.6	+	14	1554	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	PTPRA_ENST00000356147.3_Missense_Mutation_p.R385I|PTPRA_ENST00000380393.3_Missense_Mutation_p.R394I|PTPRA_ENST00000358719.4_Missense_Mutation_p.R250I|PTPRA_ENST00000318266.5_Missense_Mutation_p.R385I|PTPRA_ENST00000425918.2_Missense_Mutation_p.R405I|PTPRA_ENST00000399903.2_Missense_Mutation_p.R394I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	394	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R394I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGACCAACAGAAAGCCACAG	0.567000													7	138					8.12818e-05	8.89499e-05	1	1	0
BBS2	583	broad.mit.edu	37	16	56536674	56536674	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:56536674T>A	ENST00000245157.5	-	8	1271	c.851A>T	c.(850-852)aAt>aTt	p.N284I	BBS2_ENST00000568104.1_Missense_Mutation_p.N284I|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	284					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.N284I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AGAAGAAAAATTGTCCTTAAA	0.418000									Bardet-Biedl syndrome				5	120					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48339978	48339978	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:48339978G>T	ENST00000421967.1	-	2	98	c.53C>A	c.(52-54)gCt>gAt	p.A18D	NME6_ENST00000450160.1_Missense_Mutation_p.A10D|NME6_ENST00000451657.1_Missense_Mutation_p.A10D|NME6_ENST00000435684.1_Missense_Mutation_p.A10D|NME6_ENST00000452211.1_Missense_Mutation_p.A10D|NME6_ENST00000415053.1_Missense_Mutation_p.A10D|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000447314.1_Intron|NME6_ENST00000444069.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.A10D|NME6_ENST00000415644.1_Missense_Mutation_p.A10D|NME6_ENST00000426689.2_Missense_Mutation_p.A10D|NME6_ENST00000426723.1_Missense_Mutation_p.A10D	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	10					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCTGGAGAGCCTGAGGGCT	0.547000													3	43					0.004672	0.00492684	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159410483	159410483	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:159410483G>A	ENST00000423932.3	+	1	972	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	312					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.C312Y(2)|p.C312F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GATGCTCTGTGCAGGGCTGTT	0.483000													19	77					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19961381	19961381	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:19961381C>A	ENST00000295824.9	-	3	1101	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	EFHB_ENST00000344838.4_Missense_Mutation_p.D184Y|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	314					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.D314Y(2)|p.D312Y(2)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATCTGGGGATCATTTGCTCTT	0.333000													16	77					0.00121646	0.00129064	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167717596	167717596	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:167717596G>T	ENST00000230256.3	+	5	990	c.815G>T	c.(814-816)gGa>gTa	p.G272V	UNC93A_ENST00000366829.2_Missense_Mutation_p.G230V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	272						integral to membrane|plasma membrane		p.G272V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCAGCAAGGATTCCTCTCC	0.512000													29	201					1.30293e-26	1.60636e-26	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991282	21991282	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:21991282A>G	ENST00000594012.1	-	7	2053	c.1539T>C	c.(1537-1539)ttT>ttC	p.F513F	ZNF43_ENST00000354959.4_Silent_p.F519F|ZNF43_ENST00000598381.1_Silent_p.F513F|ZNF43_ENST00000595461.1_Silent_p.F513F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F519F(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACCACTTAAAAGCTTTGC	0.368000													50	88					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:47958147C>T	ENST00000426837.2	-	8	1308	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L390L			P27816	MAP4_HUMAN	microtubule-associated protein 4	390	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L390L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGAGCCAAGTCCATTT	0.448000													4	273					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549183	226549183	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:226549183T>C	ENST00000366794.5	-	23	3166	c.3023A>G	c.(3022-3024)aAt>aGt	p.N1008S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1008	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.N1008S(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGTCTTAAAATTGAATTTCAG	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					48	98					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60637432	60637432	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:60637432A>T	ENST00000582809.1	+	11	1032	c.329A>T	c.(328-330)tAc>tTc	p.Y110F	TLK2_ENST00000346027.5_Missense_Mutation_p.Y259F|TLK2_ENST00000343388.7_Missense_Mutation_p.Y227F|TLK2_ENST00000326270.9_Missense_Mutation_p.Y259F|TLK2_ENST00000542523.1_Missense_Mutation_p.Y227F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	259					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Y259F(4)|p.Y258F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTAGAGAAATACAAGGAACGA	0.348000													45	143					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26570005	26570005	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:26570005G>C	ENST00000376261.3	+	12	1728	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	GAD2_ENST00000259271.3_Missense_Mutation_p.V409L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	409					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V409L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGCTCTCCTGGTTAGAGAAGA	0.488000													70	221					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994591	72994591	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:72994591G>A	ENST00000308744.6	+	2	687	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G95S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.G98S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	197					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.G197S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTACTAGTTGGCATATTCTG	0.358000													107	341					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097855	175097855	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:175097855C>G	ENST00000239462.4	+	15	3416	c.3303C>G	c.(3301-3303)gaC>gaG	p.D1101E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1101	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D1101E(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTACTGTGACATGGAAACGG	0.602000													60	298					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882533	64882533	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64882533C>T	ENST00000279263.7	+	7	1034	c.872C>T	c.(871-873)tCt>tTt	p.S291F	TM7SF2_ENST00000345348.5_Missense_Mutation_p.S291F|TM7SF2_ENST00000540748.1_Missense_Mutation_p.S175F	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	291					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.S291F(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCATGGCCTCTGTCATCTGC	0.612000													20	19					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:132641792C>T	ENST00000367963.3	-	9	1459	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_ENST00000336749.3_Silent_p.T379T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	447					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.T379T(2)|p.T447T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299000													14	78					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72601938	72601938	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:72601938G>A	ENST00000299687.5	+	6	5193	c.5193G>A	c.(5191-5193)cgG>cgA	p.R1731R	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.R1731R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1731R(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTTGACTCGGCATAAACGTG	0.448000													3	64					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129154963	129154963	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:129154963C>T	ENST00000540052.1	+	4	3489	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1149W(2)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCACAGTGCCGGAAGCTGCC	0.547000													6	36					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090777	238090777	+	RNA	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:238090777G>A	ENST00000450451.1	+	0	2283					NR_027247.2																						ACATCAGGGAGAAGCTGTGCT	0.602000													7	34					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66880001	66880001	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:66880001A>G	ENST00000269080.2	-	27	3655	c.3518T>C	c.(3517-3519)tTt>tCt	p.F1173S	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1213S|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1213S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1173						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1173S(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTAAAAAGAAAAATGATAAA	0.289000													12	46					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45814933	45814933	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:45814933A>G	ENST00000320560.8	+	18	2499	c.2297A>G	c.(2296-2298)gAc>gGc	p.D766G	ANO6_ENST00000435642.1_Missense_Mutation_p.D766G|ANO6_ENST00000423947.3_Missense_Mutation_p.D787G|ANO6_ENST00000425752.2_Missense_Mutation_p.D766G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.D748G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	766					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.D766G(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCCTACGGGGACCACACTTCC	0.488000													7	594					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252962	37252962	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:37252962G>T	ENST00000310758.4	-	12	1579	c.932C>A	c.(931-933)aCc>aAc	p.T311N	ELMO1_ENST00000442504.1_Missense_Mutation_p.T311N|ELMO1_ENST00000448602.1_Missense_Mutation_p.T311N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	311					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T311N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTCCATTTTGGTCATCATCCT	0.502000													56	189					3.95532e-38	5.01379e-38	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731313	21731313	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:21731313G>C	ENST00000584755.1	+	2	1012	c.615G>C	c.(613-615)gcG>gcC	p.A205A	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.A205A(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCGGTACTCTTTC	0.517000													23	104					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305214	23305214	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:23305214C>A	ENST00000358689.4	-	4	626	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	ENTPD4_ENST00000417069.2_Missense_Mutation_p.V131L|ENTPD4_ENST00000356206.6_Missense_Mutation_p.V131L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	131					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.V131L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTCATGACCACTGGCTTTCGG	0.448000													159	530					3.11514e-58	4.15352e-58	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110827061	110827061	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:110827061A>T	ENST00000375820.4	-	38	3355	c.3234T>A	c.(3232-3234)ccT>ccA	p.P1078P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1078	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P1078P(2)|p.P721P(2)		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)			CCTTCTCTCCAGGGCTTCCTG	0.517000													89	317					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186473	239186473	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:239186473G>A	ENST00000254657.3	-	2	384	c.105C>T	c.(103-105)agC>agT	p.S35S	PER2_ENST00000254658.3_Silent_p.S35S|PER2_ENST00000355768.2_Silent_p.S35S|PER2_ENST00000440245.1_Silent_p.S35S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	35					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.S35S(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGCCACTGCTCATGTCCA	0.627000													6	36					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323436	31323436	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:31323436T>A	ENST00000269197.5	+	12	3624	c.3624T>A	c.(3622-3624)ccT>ccA	p.P1208P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P915P(2)|p.P1208P(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAACATACCTGTGTCACATT	0.398000													14	58					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802159	34802159	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:34802159C>T	ENST00000192788.5	+	5	675	c.504C>T	c.(502-504)cgC>cgT	p.R168R	UHRF1BP1_ENST00000452449.2_Silent_p.R168R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	168								p.R168R(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTTACCCGCATCACTGACC	0.502000													23	74					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608145	46608145	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:46608145C>A	ENST00000239174.6	-	1	214	c.122G>T	c.(121-123)aGc>aTc	p.S41I	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41I	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTTGCATAGCTGTCAACCGC	0.662000													6	35					0.00116845	0.00122994	1	1	0
ORC2	4999	broad.mit.edu	37	2	201814323	201814323	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:201814323A>C	ENST00000234296.2	-	5	531	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	94					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.V94V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAAAAGAATAAACTTTATTTC	0.284000													11	18					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12439574	12439574	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:12439574G>A	ENST00000358136.3	+	57	11244	c.11114G>A	c.(11113-11115)cGc>cAc	p.R3705H	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.R3680H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3704					protein localization			p.R3705H(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGCCTGACCGCAGGCGAAGC	0.498000													4	440					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73328799	73328799	+	Missense_Mutation	SNP	A	A	C	rs150762903		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:73328799A>C	ENST00000392562.1	-	3	940	c.158T>G	c.(157-159)aTa>aGa	p.I53R	GRB2_ENST00000578961.1_Missense_Mutation_p.I53R|GRB2_ENST00000392563.1_Missense_Mutation_p.I53R|GRB2_ENST00000316615.5_Missense_Mutation_p.I53R|GRB2_ENST00000316804.5_Missense_Mutation_p.I53R|GRB2_ENST00000392564.1_Missense_Mutation_p.I53R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	53	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.I53R(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTTCATTTCTATGTAGTTCTT	0.398000													18	95					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48700726	48700726	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:48700726G>A	ENST00000557021.1	-	7	1066	c.906C>T	c.(904-906)ccC>ccT	p.P302P	UBE2V1_ENST00000340309.3_Silent_p.P102P|UBE2V1_ENST00000420027.2_Silent_p.P35P|UBE2V1_ENST00000415862.2_Silent_p.P35P|UBE2V1_ENST00000371677.3_Silent_p.P102P|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000371674.3_Silent_p.P79P|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.P302P|UBE2V1_ENST00000396059.3_5'UTR	NM_199203.2	NP_954673.1			transmembrane protein 189									p.P102P(2)|p.P302P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTACAAAGGGGGGTGCTTCTG	0.358000													40	73					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792844	131792844	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:131792844G>A	ENST00000286355.5	-	18	5640	c.3548C>T	c.(3547-3549)cCa>cTa	p.P1183L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P1052L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P1183L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGTCTTCTTGGGGGCAAGAT	0.512000										HNSCC(32;0.087)			75	213					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52181038	52181038	+	Missense_Mutation	SNP	G	G	A	rs147071412	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:52181038G>A	ENST00000394970.2	-	5	846	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	POC1A_ENST00000474012.1_Missense_Mutation_p.R139W|POC1A_ENST00000296484.2_Missense_Mutation_p.R177W	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	177						centriole|microtubule basal body		p.R177W(1)		endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						ACACATTCCCGGCTGCTCTTG	0.592000													3	48					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359612	51359612	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:51359612G>A	ENST00000360617.3	+	2	163	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	KLK3_ENST00000326003.2_Missense_Mutation_p.V55M|KLK3_ENST00000595952.1_Missense_Mutation_p.V55M|KLK3_ENST00000597483.1_Missense_Mutation_p.V55M|KLK3_ENST00000593997.1_Missense_Mutation_p.V55M			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	55	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.V55M(4)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGGTGTTCTGGTGCACCCCCA	0.632000													49	166					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663203	99663203	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:99663203T>A	ENST00000373034.4	-	1	2068	c.393A>T	c.(391-393)gcA>gcT	p.A131A	PCDH19_ENST00000255531.7_Silent_p.A131A|PCDH19_ENST00000420881.2_Silent_p.A131A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	131	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A131A(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGATCTGTGCTGCCGGGAAAC	0.577000													9	62					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7318876	7318876	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:7318876G>A	ENST00000361972.4	-	7	938	c.848C>T	c.(847-849)cCt>cTt	p.P283L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P283L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	283					regulation of transcription, DNA-dependent	nucleus		p.P283L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CATTGGAAGAGGAAATTTGGC	0.388000													9	404					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421330	116421330	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:116421330G>C	ENST00000281928.3	-	21	4753	c.4547C>G	c.(4546-4548)aCt>aGt	p.T1516S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1516					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.T1516S(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCTGCAGAGTGGCTAAATA	0.473000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	102					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918921	92918921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:92918921C>A	ENST00000326402.4	-	2	245	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	39					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	p.E39*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTCATGTTCTTCATCTGAT	0.348000													41	108					5.85753e-14	6.80229e-14	1	1	0
ERMAP	114625	broad.mit.edu	37	1	43296552	43296552	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:43296552C>T	ENST00000372517.2	+	4	443	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R67W|ERMAP_ENST00000328249.3_5'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	67	Ig-like V-type.					integral to membrane|plasma membrane		p.R67W(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGTGGCTGCGGTCCCCATT	0.632000													5	23					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76825355	76825355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76825355G>A	ENST00000278559.3	+	5	763	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.G232S|CAPN5_ENST00000529629.1_Missense_Mutation_p.G192S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	192	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.G192S(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTCACGGGTGGTGTTTCTGA	0.567000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	303					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148044438	148044438	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:148044438T>G	ENST00000370460.2	+	13	3363	c.2884T>G	c.(2884-2886)Tgt>Ggt	p.C962G	AFF2_ENST00000370457.5_Missense_Mutation_p.C929G|AFF2_ENST00000342251.3_Missense_Mutation_p.C929G|AFF2_ENST00000286437.5_Missense_Mutation_p.C603G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	962					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.C962G(2)|p.C603G(1)		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)					AGGCAAATTCTGTGCTACTTT	0.373000													5	121					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293403	62293403	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:62293403T>A	ENST00000378024.4	-	5	8760	c.8486A>T	c.(8485-8487)cAt>cTt	p.H2829L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2829					nervous system development	nucleus	protein binding	p.H2829L(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTTAAAATGCATCTCTGG	0.428000													40	116					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677924	3677924	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:3677924C>T	ENST00000294600.2	+	5	875	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	264								p.A264V(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAGAGGGAGGCCCTGAAGATG	0.587000													5	25					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			31	46					4.62619e-21	5.47838e-21	1	1	0
NAT2	10	broad.mit.edu	37	8	18257858	18257858	+	Silent	SNP	C	C	T	rs45532639	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:18257858C>T	ENST00000286479.3	+	2	452	c.345C>T	c.(343-345)gaC>gaT	p.D115D	NAT2_ENST00000520116.1_5'UTR	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	115					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.D115D(2)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACCATTGACGGCAGGAATT	0.488000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				4	228					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608146	46608146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:46608146T>A	ENST00000239174.6	-	1	213	c.121A>T	c.(121-123)Agc>Tgc	p.S41C	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTGCATAGCTGTCAACCGCC	0.662000													6	35					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600408	10600408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:10600408G>A	ENST00000171111.5	-	4	1994	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R483C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R483C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAATTAAGGCGGTTTGTCCCG	0.582000													4	33					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465695	41465695	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr21:41465695C>T	ENST00000400454.1	-	21	4280	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1268	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.G1268E(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCCTCTTCCGGCTGAAGT	0.488000													12	47					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:77147419G>A	ENST00000461745.1	+	2	1216	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R|ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	106	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G122R(2)|p.G106R(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTGATGAAGGAAGCTACGT	0.517000													40	123					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962330	69962330	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:69962330C>T	ENST00000305231.7	+	1	138	c.92C>T	c.(91-93)gCa>gTa	p.A31V	UGT2B7_ENST00000508661.1_Missense_Mutation_p.A31V|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	31					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A31V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTGGGCAGCAGAATACAGC	0.428000													73	244					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277074	75277074	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:75277074G>A	ENST00000339859.4	-	19	3210	c.3110C>T	c.(3109-3111)cCg>cTg	p.P1037L	RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.P219L|USP54_ENST00000394811.2_Missense_Mutation_p.P125L|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.P1037L|USP54_ENST00000428547.1_Missense_Mutation_p.P887L|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1037					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.P1037Q(1)|p.P125L(1)|p.P1037L(1)|p.P125Q(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGGCATCACCGGGGAGGGGTT	0.522000													3	151					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408255	107408255	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:107408255G>T	ENST00000394872.2	-	39	4056	c.3825C>A	c.(3823-3825)ccC>ccA	p.P1275P	COL4A6_ENST00000372216.4_Silent_p.P1275P|COL4A6_ENST00000538570.1_Silent_p.P1250P|COL4A6_ENST00000334504.7_Silent_p.P1274P|COL4A6_ENST00000545689.1_Silent_p.P1250P			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1275	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1274P(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGGTCCAGCGGGGCCTGGGC	0.632000									Alport syndrome with Diffuse Leiomyomatosis				4	27					0.00024832	0.000264483	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39868522	39868522	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:39868522C>T	ENST00000303538.8	-	23	3140	c.2601G>A	c.(2599-2601)atG>atA	p.M867I		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	867					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.M867I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CACTAACCAACATCGCTGATA	0.393000													17	72					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388511	90388511	+	RNA	SNP	C	C	T	rs138191329	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:90388511C>T	ENST00000354530.2	+	0	377					NR_027917.1													p.P126L(2)									AGTATGTTGCCGACAATGGAG	0.458000													51	113					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784148	54784148	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:54784148C>A	ENST00000218436.6	-	8	2388	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	787	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G787C(2)									GATGGAGCACCAGGTTTGGAA	0.547000													87	298					2.43828e-56	3.22714e-56	1	1	0
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:47958144A>G	ENST00000426837.2	-	8	1311	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.A391A			P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGAGCCAAGTCCA	0.443000													4	271					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039011	31039011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:31039011G>T	ENST00000355537.3	+	4	2632	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A829S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCAAGCAAAGCTTCTCTGTT	0.577000													36	96					2.2871e-25	2.7816e-25	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48681101	48681101	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:48681101A>C	ENST00000334136.5	+	24	2587	c.2409A>C	c.(2407-2409)ccA>ccC	p.P803P	HDAC6_ENST00000376619.2_Silent_p.P803P|HDAC6_ENST00000444343.2_Silent_p.P817P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	803					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.P803P(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAGACCCACCACCCCTGCTGA	0.587000													6	28					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135288590	135288590	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:135288590C>T	ENST00000274507.1	-	2	313	c.113G>A	c.(112-114)cGc>cAc	p.R38H	LECT2_ENST00000522943.1_Missense_Mutation_p.R38H|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000514447.2_Missense_Mutation_p.R38H	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	38					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGCCATGGCGGTCACACGT	0.517000													6	853					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922448	108922448	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:108922448G>C	ENST00000375887.4	+	1	383	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V69L|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V69L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	69					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	p.V69L(2)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TTTCTACCAGGTGGCCGCCCT	0.662000													36	163					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565414	38565414	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:38565414C>T	ENST00000287675.5	+	6	764	c.668C>T	c.(667-669)gCa>gTa	p.A223V	EXOG_ENST00000358249.2_Missense_Mutation_p.A83V|EXOG_ENST00000422077.2_Missense_Mutation_p.A173V	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	223						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.A223V(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GACAACGTGGCAGTCCCCTCA	0.453000													30	134					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2975964	2975964	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:2975964A>G	ENST00000602557.1	-	43	6945	c.6390T>C	c.(6388-6390)caT>caC	p.H2130H	CSMD1_ENST00000537824.1_Silent_p.H2129H|CSMD1_ENST00000400186.3_Silent_p.H2130H|CSMD1_ENST00000542608.1_Silent_p.H2129H|CSMD1_ENST00000602723.1_Silent_p.H2130H|CSMD1_ENST00000520002.1_Silent_p.H2130H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2130	Sushi 12.					integral to membrane		p.H1858H(2)|p.H2129H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGATCCCATGCTGACAAG	0.443000													42	130					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93073033	93073033	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:93073033T>C	ENST00000359558.2	-	11	1086	c.787A>G	c.(787-789)Atg>Gtg	p.M263V	CALCR_ENST00000394441.1_Missense_Mutation_p.M229V|CALCR_ENST00000360249.4_Missense_Mutation_p.M245V|CALCR_ENST00000426151.1_Missense_Mutation_p.M229V|CALCR_ENST00000421592.1_Missense_Mutation_p.M245V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	245					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.M229V(1)|p.M263V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CAGGCCATCATGTACTGGTGG	0.453000													5	257					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418997	53418997	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:53418997C>A	ENST00000377942.3	-	3	3114	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G874W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971W(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGTTGGGCCCGCTGCAGGAT	0.577000													9	37					0.00621372	0.00642798	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140261961	140261961	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:140261961C>T	ENST00000289272.2	+	1	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P	PCDHA13_ENST00000409494.1_Silent_p.P36P|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P36P(3)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGTCCCCGAGGAAGCAA	0.657000													35	87					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882511	64882511	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64882511C>A	ENST00000279263.7	+	7	1012	c.850C>A	c.(850-852)Ccc>Acc	p.P284T	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284T|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCCGCAGCCCCTGGGGTT	0.612000													5	52					0.014758	0.0150934	1	1	0
RYR2	6262	broad.mit.edu	37	1	237819148	237819148	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:237819148G>C	ENST00000366574.2	+	53	8310	c.7993G>C	c.(7993-7995)Gca>Cca	p.A2665P	RYR2_ENST00000542537.1_Missense_Mutation_p.A2649P|RYR2_ENST00000360064.6_Missense_Mutation_p.A2663P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2665	4 X approximate repeats.|Modulator (Potential).				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	p.A2663P(2)		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)			TTTCAAACTGGCACTGCCTTG	0.408000													6	27					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071639	132071639	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:132071639C>T	ENST00000336375.5	+	9	1030	c.940C>T	c.(940-942)Cac>Tac	p.H314Y	ACPP_ENST00000475741.1_Missense_Mutation_p.H281Y|ACPP_ENST00000351273.7_Missense_Mutation_p.H314Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	314						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.H314Y(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCTTCTTGCCACTTGACGGA	0.403000													7	388					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330766	39330766	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:39330766A>G	ENST00000594769.1	-	1	52	c.53T>C	c.(52-54)aTg>aCg	p.M18T	HNRNPL_ENST00000221419.5_Silent_p.N401N|HNRNPL_ENST00000600873.1_Silent_p.N268N														p.N401N(2)|p.N268N(2)									AGCAGAAGACATTGAAGACTC	0.572000													16	67					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865249	6865249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:6865249C>G	ENST00000307659.5	+	7	3595	c.3140C>G	c.(3139-3141)cCa>cGa	p.P1047R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1047R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1047							ATP binding	p.P1047R(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTAAGCAATCCATTTTCACAA	0.383000													40	90					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13649600	13649600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:13649600G>T	ENST00000404922.3	+	3	1464	c.1345G>T	c.(1345-1347)Gga>Tga	p.G449*	FBLN2_ENST00000295760.7_Nonsense_Mutation_p.G449*|FBLN2_ENST00000535798.1_Nonsense_Mutation_p.G475*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.G449*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	449	Anaphylatoxin-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.G449*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCGCAGCCGGACAGCAGTG	0.577000													13	39					4.7546e-09	5.28289e-09	1	1	0
SCAI	286205	broad.mit.edu	37	9	127818229	127818229	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:127818229T>A	ENST00000336505.5	-	3	214	c.156A>T	c.(154-156)ccA>ccT	p.P52P	SCAI_ENST00000373549.4_Silent_p.P75P	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	52	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.P75P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TCTCTCCCTGTGGGATATCAT	0.378000													29	55					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946696	70946696	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:70946696T>C	ENST00000334414.6	-	21	5292	c.5248A>G	c.(5248-5250)Aaa>Gaa	p.K1750E	PTPRB_ENST00000261266.5_Missense_Mutation_p.K1532E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1442E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1662E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1442E|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1442E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1532	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K1532E(2)|p.K1750E(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCGGCACATTTGCTGGCAAAA	0.473000													9	756					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178571	31178571	+	Silent	SNP	G	G	T	rs145356432		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:31178571G>T	ENST00000349752.5	-	6	1206	c.567C>A	c.(565-567)atC>atA	p.I189I	GALNT14_ENST00000420311.2_Silent_p.I154I|GALNT14_ENST00000356174.3_Silent_p.I156I|GALNT14_ENST00000406653.1_Silent_p.I169I|GALNT14_ENST00000324589.5_Silent_p.I194I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	189	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I189I(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTGGGCGATGTCAGCGC	0.602000													42	104					4.64027e-19	5.42369e-19	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139407481	139407481	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:139407481G>A	ENST00000277541.6	-	15	2534	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	820	EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P820L(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTGTGTAGGGCAGCAGGCA	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	5					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973554	29973554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:29973554G>T	ENST00000378993.1	+	11	2381	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.E570*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	570	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E570*(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATTACACATGAGCAGGCTTT	0.488000													27	104					1.06801e-11	1.20907e-11	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105833976	105833976	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:105833976G>A	ENST00000353479.5	-	6	635	c.345C>T	c.(343-345)ggC>ggT	p.G115G	COL17A1_ENST00000393211.3_Silent_p.G115G|COL17A1_ENST00000369733.3_Silent_p.G115G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	115	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G115G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAAGAGTTGCCACTGGAGC	0.478000													50	186					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46595675	46595675	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr21:46595675G>A	ENST00000539173.1	+	4	494	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ADARB1_ENST00000360697.3_Missense_Mutation_p.R20H|ADARB1_ENST00000389863.4_Missense_Mutation_p.R20H|ADARB1_ENST00000348831.4_Missense_Mutation_p.R20H|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	20					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.R20H(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AAGGAAAACCGCAATCTGGAC	0.542000													5	648					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:35922941G>T	ENST00000490799.1	-	17	2573	c.2220C>A	c.(2218-2220)gtC>gtA	p.V740V	SLC26A8_ENST00000355574.2_Silent_p.V740V|SLC26A8_ENST00000394602.2_Silent_p.V635V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	740	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512000													102	394					1.8599e-75	2.49837e-75	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244104	42244104	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:42244104G>T	ENST00000327628.5	+	13	2004	c.1604G>T	c.(1603-1605)aGc>aTc	p.S535I	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.S477I|TRAK1_ENST00000449246.1_Missense_Mutation_p.S461I|TRAK1_ENST00000396175.1_Missense_Mutation_p.S477I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	535					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.S477I(4)|p.S535I(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGCTGCGCAGCGGCTCCCTC	0.637000													10	61					1.05317e-09	1.18482e-09	1	1	0
POMGNT2	84892	broad.mit.edu	37	3	43122412	43122412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:43122412T>G	ENST00000344697.2	-	2	857	c.512A>C	c.(511-513)gAc>gCc	p.D171A	GTDC2_ENST00000441964.1_Missense_Mutation_p.D171A	NM_032806.4	NP_116195.2												p.D171A(1)									TGGCAGCAGGTCGTCATGAAA	0.637000													7	48					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:31876897G>T	ENST00000396184.3	-	12	1304	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	PDE1C_ENST00000396182.2_Missense_Mutation_p.A367D|PDE1C_ENST00000396191.1_Missense_Mutation_p.A367D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A367D|PDE1C_ENST00000396193.1_Missense_Mutation_p.A427D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A367D(4)|p.A427D(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAGGGATAAGGCTTTTGGCTT	0.408000													71	169					5.32961e-40	6.90165e-40	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047658	46047658	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr21:46047658T>A	ENST00000397911.3	+	1	619	c.570T>A	c.(568-570)ccT>ccA	p.P190P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	190	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.P190P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGTAAGCCTGTCTGCTGCA	0.592000													70	243					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117098010	117098010	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:117098010G>C	ENST00000320934.3	-	5	1262	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	211	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	p.S211C(2)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGGTCATTAGAGTTGAGGTC	0.557000			T	IGH@	MLCLS								54	93					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569580	107569580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:107569580G>A	ENST00000393561.1	-	29	5072	c.4888C>T	c.(4888-4890)Cag>Tag	p.Q1630*	LAMB1_ENST00000222399.6_Nonsense_Mutation_p.Q1606*			P07942	LAMB1_HUMAN	laminin, beta 1	1606	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.Q1606*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCGACCTGGGCCTTTTCT	0.408000													5	561					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502261	110502261	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:110502261G>A	ENST00000378402.5	+	60	10065	c.9961G>A	c.(9961-9963)Gta>Ata	p.V3321I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3321					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V3323I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGATATGCTGTAACGTTTCT	0.308000										HNSCC(38;0.096)			3	80					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTGAGTCCGCATGCCAATG	0.507000													5	634					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26686436	26686436	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:26686436G>T	ENST00000272371.2	-	41	5233	c.5107C>A	c.(5107-5109)Cgc>Agc	p.R1703S	OTOF_ENST00000339598.3_Missense_Mutation_p.R936S|OTOF_ENST00000402415.3_Missense_Mutation_p.R1013S|OTOF_ENST00000338581.6_Missense_Mutation_p.R936S|OTOF_ENST00000403946.3_Missense_Mutation_p.R1703S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1703					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R1013S(1)|p.R936S(1)|p.R1703S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCCAGGCGGCCCTGAGGA	0.617000													3	4					0.004672	0.0048893	1	1	0
ME1	4199	broad.mit.edu	37	6	84025069	84025069	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:84025069C>T	ENST00000369705.3	-	6	780	c.664G>A	c.(664-666)Gat>Aat	p.D222N	ME1_ENST00000543031.1_Missense_Mutation_p.D147N|ME1_ENST00000541327.1_Missense_Mutation_p.D56N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	222					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D222N(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAAAAATCATCATATTCAGAA	0.299000													58	303					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9303303	9303303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:9303303G>T	ENST00000261336.2	-	34	4349	c.4321C>A	c.(4321-4323)Caa>Aaa	p.Q1441K	PZP_ENST00000381997.2_Missense_Mutation_p.Q1227K	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.Q1441K(2)|p.Q1227K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGATGTCTTGCAGAACCATG	0.403000													35	133					9.9998e-32	1.25872e-31	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:55143640C>A	ENST00000396331.1	+	6	970	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	LILRB1_ENST00000396332.4_Missense_Mutation_p.P205T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGAACTCTCCCTATGAGTG	0.607000										HNSCC(37;0.09)			47	169					8.28887e-21	9.75161e-21	1	1	0
CAPN5	726	broad.mit.edu	37	11	76829344	76829344	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76829344G>C	ENST00000278559.3	+	8	1302	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q411H|CAPN5_ENST00000529629.1_Missense_Mutation_p.Q371H	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	371	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.Q371H(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCGCGACAGAACCGCGGTG	0.642000													6	17					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160304777	160304777	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:160304777T>G	ENST00000392783.2	-	5	973	c.478A>C	c.(478-480)Agt>Cgt	p.S160R	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S160R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.S158R|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S158R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	160	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S160R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCGATTACTTTTTCCCGAA	0.368000													8	276					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230372	77230372	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:77230372G>T	ENST00000237642.6	+	2	1040	c.296G>T	c.(295-297)aGa>aTa	p.R99I	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR	NM_003943.4	NP_003934.1												p.R99I(2)									GCATCATGGAGATTGCAGAAT	0.418000													18	91					1.67942e-08	1.83209e-08	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487232	248487232	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:248487232G>T	ENST00000317965.2	-	1	667	c.639C>A	c.(637-639)atC>atA	p.I213I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AAGTGATGATGATTGCAACAG	0.423000													16	1761					0.000673444	0.000713058	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805391	54805391	+	Missense_Mutation	SNP	G	G	T	rs146327371		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:54805391G>T	ENST00000306858.7	+	5	1738	c.1622G>T	c.(1621-1623)cGt>cTt	p.R541L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCGGCTTCGTTCCTCTTTA	0.418000													27	117					7.68411e-24	9.28282e-24	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1629958	1629958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:1629958G>A	ENST00000381580.1	-	2	250	c.71C>T	c.(70-72)tCc>tTc	p.S24F	SIRPG_ENST00000303415.3_Missense_Mutation_p.S57F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S57F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S57F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S57F			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	57					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.S57F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGAAGCAGGGAGGTCACAGT	0.537000													27	125					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64879032	64879032	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64879032G>A	ENST00000279281.3	+	10	2414	c.2322G>A	c.(2320-2322)gtG>gtA	p.V774V	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)									p.V774V(2)									AGCCCAGTGTGGTTGAGGTCA	0.652000													5	8					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72178676	72178676	+	RNA	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:72178676T>C	ENST00000438125.1	-	0	886							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GGGTACATTATTGGTTCTCCC	0.473000													35	49					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23547389	23547389	+	Silent	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr14:23547389C>G	ENST00000262710.1	-	8	2595	c.2268G>C	c.(2266-2268)ctG>ctC	p.L756L	ACIN1_ENST00000457657.1_Silent_p.L716L|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Silent_p.L698L|ACIN1_ENST00000555053.1_Silent_p.L756L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	756					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.L756L(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGATTCTGGCAGATGAGAGG	0.507000													69	147					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714578	13714578	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:13714578G>A	ENST00000265104.4	-	75	13165	c.13061C>T	c.(13060-13062)gCg>gTg	p.A4354V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4354					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A4354V(1)		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)					GGCCACCACCGCCTCCCGGGT	0.577000									Kartagener syndrome				4	263					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P531P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562000													5	392					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383369	37383369	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:37383369C>A	ENST00000520965.1	-	6	633	c.567G>T	c.(565-567)ctG>ctT	p.L189L	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.L108L|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L108L(2)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTGATTCCAGATCTGAAA	0.313000													10	52					0.00010058	0.000107764	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114388965	114388965	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:114388965A>T	ENST00000343508.3	-	2	229		c.e2+1		CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(2)		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						CAGGATATCTACCTGAGGCTG	0.552000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	105					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603225	26603225	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:26603225A>G	ENST00000252992.4	+	13	2233	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.N650S	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	701						centrosome|nucleolus|spindle pole		p.N701S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGACCCCAATCTCTCCCTG	0.592000													13	27					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	592577	592577	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:592577C>A	ENST00000230449.4	-	11	1219	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	362					exocytosis|protein transport			p.D362Y(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCATGAAGGTCAGACAGGTAC	0.428000													4	152					0.184627	0.186702	1	1	0
SPG11	80208	broad.mit.edu	37	15	44891010	44891010	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr15:44891010G>C	ENST00000261866.7	-	22	3727	c.3711C>G	c.(3709-3711)gcC>gcG	p.A1237A	SPG11_ENST00000558319.1_Silent_p.A1237A|SPG11_ENST00000535302.2_Silent_p.A1237A|SPG11_ENST00000427534.2_Silent_p.A1237A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1237					cell death	cytosol|integral to membrane|nucleus	protein binding	p.A1237A(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTATAACATAGGCTTCATTGC	0.408000													38	165					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183867	89183867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:89183867G>C	ENST00000295908.6	-	7	1388	c.999C>G	c.(997-999)taC>taG	p.Y333*		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	333	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.Y333*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CCTCAGTACCGTACTGTATTG	0.418000													22	86					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22587979	22587979	+	RNA	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:22587979T>A	ENST00000550753.1	+	0	2454					NR_003676.2																						CCCTGCTGGTTCTAATGGCCA	0.527000													27	215					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671907	45671907	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:45671907G>T	ENST00000308064.2	-	4	1237	c.567C>A	c.(565-567)aaC>aaA	p.N189K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	189					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.N189K(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGGTCAGGTTGAGTAGCC	0.721000													6	18					0.00621372	0.00642798	1	1	0
DSG1	1828	broad.mit.edu	37	18	28908187	28908187	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:28908187A>T	ENST00000257192.4	+	4	464	c.252A>T	c.(250-252)acA>acT	p.T84T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	84	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.T84T(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAAGTTACATACCGCATCT	0.373000													53	226					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810712	53810712	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:53810712T>C	ENST00000288139.3	+	37	4623	c.4505T>C	c.(4504-4506)tTa>tCa	p.L1502S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.L374S|CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1482S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1467S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1482					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1502S(2)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTCACCATTTAGATGAATTC	0.403000													18	99					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83372454	83372454	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:83372454C>A	ENST00000262752.2	-	10	805	c.798G>T	c.(796-798)atG>atT	p.M266I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M266I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	266	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.M266I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCAGTAAGCATTTCAAACT	0.284000													14	77					7.41877e-09	8.14256e-09	1	1	0
APOBEC3G	60489	broad.mit.edu	37	22	39479863	39479863	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:39479863C>A	ENST00000407997.3	+	5	1066	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.Q237K|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.Q237K(4)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTGCTGAACCAGCGCAGGGG	0.572000													12	63					0.0332995	0.0338639	1	1	0
PRNT	149830	broad.mit.edu	37	20	4713162	4713162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:4713162A>T	ENST00000326539.2	-	2	1098	c.161T>A	c.(160-162)tTa>tAa	p.L54*	PRNT_ENST00000423718.2_Nonsense_Mutation_p.L54*|PRNT_ENST00000418528.1_Nonsense_Mutation_p.L54*														p.L54*(4)		endometrium(2)|lung(5)	7						cagaaaggataatggccatgc	0.483000													17	105					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554286	41554286	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:41554286A>T	ENST00000396942.1	-	25	2726	c.2643T>A	c.(2641-2643)tcT>tcA	p.S881S	ANK1_ENST00000347528.4_Silent_p.S881S|ANK1_ENST00000289734.7_Silent_p.S881S|ANK1_ENST00000352337.4_Silent_p.S881S|ANK1_ENST00000396945.1_Silent_p.S881S|ANK1_ENST00000265709.8_Silent_p.S922S|ANK1_ENST00000379758.2_Silent_p.S881S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	881					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S881S(2)|p.S922S(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATACTCTTTAGATGCCTGAG	0.632000													4	5					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40054003	40054003	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:40054003G>T	ENST00000373233.3	-	29	4338	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1387					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P1387P(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAACTGGCCAGGGCGATTTGT	0.512000													11	35					7.03913e-09	7.77327e-09	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125877379	125877379	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:125877379C>A	ENST00000393434.2	-	3	580	c.231G>T	c.(229-231)ggG>ggT	p.G77G	ALDH1L1_ENST00000452905.2_Silent_p.G77G|ALDH1L1_ENST00000393431.2_Silent_p.G77G|ALDH1L1_ENST00000472186.1_Silent_p.G77G|ALDH1L1_ENST00000273450.3_Silent_p.G87G|ALDH1L1_ENST00000455064.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	77	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G77G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGCTCGGCCCCCAAAGCCT	0.567000													17	69					5.35267e-07	5.8041e-07	1	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195087	18195087	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:18195087G>A	ENST00000314254.3	+	1	704	c.284G>A	c.(283-285)cGc>cAc	p.R95H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R95H(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATCTCATCCGCAAAATCCTC	0.517000													4	184					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													7	41					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389321	9389321	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:9389321G>A	ENST00000378501.2	+	19	1810	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I	PLCB4_ENST00000378473.3_Missense_Mutation_p.V611I|PLCB4_ENST00000414679.2_Missense_Mutation_p.V611I|PLCB4_ENST00000378493.1_Missense_Mutation_p.V599I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.V599I|PLCB4_ENST00000278655.4_Missense_Mutation_p.V599I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	599	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.V599I(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TAATGAATCAGTCGGTCTTGG	0.388000													4	120					0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731759	53731759	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:53731759C>A	ENST00000248706.3	+	4	752	c.534C>A	c.(532-534)ttC>ttA	p.F178L	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	178	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.F178L(2)		autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GCTGCTCATTCTATGAAGTGT	0.507000													88	329					6.23761e-45	8.13602e-45	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54919343	54919343	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:54919343G>T	ENST00000474759.1	+	22	1996	c.1948G>T	c.(1948-1950)Gca>Tca	p.A650S	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A556S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A650S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A650S|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	650						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A650S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGTGTCCTTGGCAGATGAATG	0.493000													50	222					3.95532e-38	5.01379e-38	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62020210	62020210	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:62020210C>T	ENST00000578147.1	-	23	4340	c.4264G>A	c.(4264-4266)Gtg>Atg	p.V1422M	SCN4A_ENST00000435607.1_Missense_Mutation_p.V1422M			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1422					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1422M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGACGACCACGAAGTCAAAG	0.582000													4	57					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943796	9943796	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:9943796G>A	ENST00000396573.2	-	6	1454	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	GRIN2A_ENST00000330684.3_Missense_Mutation_p.T382M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T382M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T382M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T225M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T382M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	382					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	p.T382M(1)		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)	CAGGCTCAGCGTATGGTTCTC	0.582000													4	354					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:154858045G>T	ENST00000460393.1	+	10	1041	c.921G>T	c.(919-921)caG>caT	p.Q307H	MME_ENST00000492661.1_Missense_Mutation_p.Q307H|MME_ENST00000360490.2_Missense_Mutation_p.Q307H|MME_ENST00000462745.1_Missense_Mutation_p.Q307H|MME_ENST00000493237.1_Missense_Mutation_p.Q307H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q307H(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTGGCCCAGATCCAAAATA	0.323000													32	138					2.54651e-27	3.16118e-27	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885786	88885786	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:88885786C>A	ENST00000319675.3	-	1	510	c.414G>T	c.(412-414)ttG>ttT	p.L138F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	138								p.L138F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGGGAATCCAAGTGATTCA	0.562000													30	138					8.4185e-14	9.71366e-14	1	1	0
GSTA3	2940	broad.mit.edu	37	6	52762756	52762756	+	Splice_Site	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:52762756T>C	ENST00000211122.3	-	6	480		c.e6-2		GSTA3_ENST00000370968.1_Splice_Site	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.?(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTGTAACACCTGGAGAATTTG	0.522000													4	588					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332841	31332841	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:31332841C>T	ENST00000544665.3	+	16	1969	c.1898C>T	c.(1897-1899)gCa>gTa	p.A633V	ITGAM_ENST00000287497.8_Missense_Mutation_p.A632V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	632					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.A632V(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGAAGTGGCAAGGAATGTA	0.507000													35	949					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375459	65375459	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:65375459C>T	ENST00000309100.3	-	3	1488	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	MAP3K11_ENST00000530153.1_Missense_Mutation_p.A78T	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	335	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.A335T(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TTGTTAACAGCTACGCCATAG	0.607000													11	16					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			31	46					3.21399e-22	3.83125e-22	1	1	0
ZCCHC13	389874	broad.mit.edu	37	X	73524453	73524453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:73524453C>A	ENST00000339534.2	+	1	429	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	118							nucleic acid binding|zinc ion binding	p.L118I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TTGCGGCAAACTTGGGCACAT	0.542000													45	155					1.19451e-25	1.46267e-25	1	1	0
CASR	846	broad.mit.edu	37	3	122003109	122003109	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:122003109C>A	ENST00000498619.1	+	7	2776	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	CASR_ENST00000490131.1_Missense_Mutation_p.L770I|CASR_ENST00000296154.5_Missense_Mutation_p.L770I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	770					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGGGCTCCCTCATGGCCCT	0.582000													34	112					1.414e-09	1.58087e-09	1	1	0
BBS2	583	broad.mit.edu	37	16	56536674	56536674	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:56536674T>A	ENST00000245157.5	-	8	1271	c.851A>T	c.(850-852)aAt>aTt	p.N284I	BBS2_ENST00000568104.1_Missense_Mutation_p.N284I|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	284					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.N284I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AGAAGAAAAATTGTCCTTAAA	0.418000									Bardet-Biedl syndrome				7	269					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221917	44221917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:44221917C>T	ENST00000330884.4	-	7	939	c.819G>A	c.(817-819)atG>atA	p.M273I	SULT4A1_ENST00000540422.1_Missense_Mutation_p.M160I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.M273I(2)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CACACTTTCCCATCTTCTGTT	0.418000													48	155					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839373	233839373	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:233839373C>T	ENST00000264051.3	-	2	506	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	76	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.K76K(4)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTCTCTGGCCTTGGCTTTGC	0.512000													51	130					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388726	80388726	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:80388726A>C	ENST00000265080.4	+	10	1564	c.1497A>C	c.(1495-1497)acA>acC	p.T499T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	499	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.T499T(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTATTTACAAAACACTTTT	0.388000													63	247					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr14:20404500C>A	ENST00000285600.4	+	1	734	c.675C>A	c.(673-675)gtC>gtA	p.V225V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATCGGTGTCCGATGCAGGT	0.418000													39	159					9.85521e-28	1.2319e-27	1	1	0
DAW1	164781	broad.mit.edu	37	2	228750068	228750068	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:228750068A>T	ENST00000373666.2	+	2	678	c.40_splice	c.e2-1	p.G14_splice	DAW1_ENST00000309931.2_Splice_Site_p.G14_splice|DAW1_ENST00000545118.1_5'UTR					dynein assembly factor with WDR repeat domains 1									p.G14G(2)									TTTCTATAGGAATTATGTTGG	0.303000													17	62					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882512	64882512	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64882512C>A	ENST00000279263.7	+	7	1013	c.851C>A	c.(850-852)cCc>cAc	p.P284H	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284H|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168H	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCGCAGCCCCTGGGGTTG	0.612000													5	51					0.014758	0.0150934	1	1	0
C10orf137	26098	broad.mit.edu	37	10	127434426	127434426	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:127434426C>T	ENST00000337623.3	+	18	2744	c.2639C>T	c.(2638-2640)gCg>gTg	p.A880V	RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.A914V|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.A880V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CGGATTTGTGCGCAGGCCCAC	0.448000													5	351					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064849	37064849	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:37064849G>A	ENST00000282516.8	+	47	8769	c.8270G>A	c.(8269-8271)cGc>cAc	p.R2757H		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2757					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.R2757H(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGTGATGGCCGCAAACTGGTG	0.458000													4	272					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422463	89422463	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr15:89422463G>A	ENST00000359595.3	-	4	745	c.531C>T	c.(529-531)taC>taT	p.Y177Y	HAPLN3_ENST00000562889.1_Silent_p.Y239Y	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	177	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.Y177Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTGAACTGGTAGCGCCCGT	0.657000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89931018	89931018	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:89931018G>A	ENST00000405460.2	+	10	2023	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	643					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V643I(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTTTACTGGTTACTCCAGC	0.378000													52	171					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110570411	110570411	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:110570411A>G	ENST00000242591.5	+	5	995	c.489A>G	c.(487-489)atA>atG	p.I163M	IFT81_ENST00000361948.4_Missense_Mutation_p.I163M|IFT81_ENST00000552912.1_Missense_Mutation_p.I163M	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	163					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.I163M(4)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTCAAGATATCTGGATTTT	0.259000													6	17					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:55563901G>T	ENST00000335605.1	+	1	870	c.870G>T	c.(868-870)ctG>ctT	p.L290L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L290L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408000													21	73					2.21704e-12	2.52574e-12	1	1	0
LRP6	4040	broad.mit.edu	37	12	12288174	12288174	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:12288174T>C	ENST00000261349.4	-	17	3744	c.3668A>G	c.(3667-3669)gAt>gGt	p.D1223G	LRP6_ENST00000543091.1_Missense_Mutation_p.D1223G|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1223	EGF-like 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.D1223G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTAGTACCATCCCCCTTTAC	0.468000													4	378					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64383808	64383808	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:64383808C>T	ENST00000355086.3	+	3	906	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R128W|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R88W	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	128					axon guidance	cytosol		p.R128W(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTGATTATGCGGTTCATGCA	0.418000													6	860					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985890	60985890	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:60985890C>G	ENST00000398117.1	-	1	1471	c.10G>C	c.(10-12)Gct>Cct	p.A4P	BCL2_ENST00000444484.1_Missense_Mutation_p.A4P|BCL2_ENST00000589955.1_Missense_Mutation_p.A4P|BCL2_ENST00000333681.4_Missense_Mutation_p.A4P	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	4					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.A4P(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTTCTCCCAGCGTGCGCCATC	0.587000			T	IGH@	"""NHL, CLL"""								4	33					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49454055	49454055	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:49454055C>T	ENST00000376150.3	-	5	516	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	128					cellular defense response			p.L128L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTGGATTTGGCAGGCCCAACT	0.488000													5	586					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15118613	15118613	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:15118613G>A	ENST00000253699.3	-	12	1670	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R353W	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	353	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	p.R353W(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTCTGCAGCCGCAAATTGCTT	0.463000													4	204					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410483	159410483	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:159410483G>A	ENST00000423932.3	+	1	972	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	312					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.C312Y(2)|p.C312F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GATGCTCTGTGCAGGGCTGTT	0.483000													24	128					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19961381	19961381	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:19961381C>A	ENST00000295824.9	-	3	1101	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	EFHB_ENST00000344838.4_Missense_Mutation_p.D184Y|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	314					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.D314Y(2)|p.D312Y(2)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATCTGGGGATCATTTGCTCTT	0.333000													42	192					1.41401e-22	1.69681e-22	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167717596	167717596	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:167717596G>T	ENST00000230256.3	+	5	990	c.815G>T	c.(814-816)gGa>gTa	p.G272V	UNC93A_ENST00000366829.2_Missense_Mutation_p.G230V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	272						integral to membrane|plasma membrane		p.G272V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCAGCAAGGATTCCTCTCC	0.512000													54	222					1.44317e-28	1.92766e-28	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991282	21991282	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:21991282A>G	ENST00000594012.1	-	7	2053	c.1539T>C	c.(1537-1539)ttT>ttC	p.F513F	ZNF43_ENST00000354959.4_Silent_p.F519F|ZNF43_ENST00000595461.1_Silent_p.F513F|ZNF43_ENST00000598381.1_Silent_p.F513F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F519F(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACCACTTAAAAGCTTTGC	0.368000													25	51					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549183	226549183	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:226549183T>C	ENST00000366794.5	-	23	3166	c.3023A>G	c.(3022-3024)aAt>aGt	p.N1008S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1008	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.N1008S(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGTCTTAAAATTGAATTTCAG	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					16	44					0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129115963	129115963	+	RNA	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:129115963A>G	ENST00000514355.1	-	0	432																				lung(1)	1						TTCACAAGGGATCTGAGGGCA	0.527000													5	402					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994591	72994591	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:72994591G>A	ENST00000308744.6	+	2	687	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	NPFFR2_ENST00000358749.3_Missense_Mutation_p.G95S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.G98S|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	197					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.G197S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTACTAGTTGGCATATTCTG	0.358000													29	121					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097855	175097855	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:175097855C>G	ENST00000239462.4	+	15	3416	c.3303C>G	c.(3301-3303)gaC>gaG	p.D1101E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1101	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D1101E(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTACTGTGACATGGAAACGG	0.602000													34	187					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882533	64882533	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64882533C>T	ENST00000279263.7	+	7	1034	c.872C>T	c.(871-873)tCt>tTt	p.S291F	TM7SF2_ENST00000540748.1_Missense_Mutation_p.S175F|TM7SF2_ENST00000345348.5_Missense_Mutation_p.S291F	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	291					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.S291F(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCATGGCCTCTGTCATCTGC	0.612000													40	177					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:132641792C>T	ENST00000367963.3	-	9	1459	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.T379T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	447					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.T379T(2)|p.T447T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTATCTTTCGTGTTGTAGC	0.299000													3	20					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129154963	129154963	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:129154963C>T	ENST00000540052.1	+	4	3489	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1149W(2)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCACAGTGCCGGAAGCTGCC	0.547000													15	110					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090777	238090777	+	RNA	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:238090777G>A	ENST00000450451.1	+	0	2283					NR_027247.2																						ACATCAGGGAGAAGCTGTGCT	0.602000													7	17					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66880001	66880001	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:66880001A>G	ENST00000269080.2	-	27	3655	c.3518T>C	c.(3517-3519)tTt>tCt	p.F1173S	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1213S|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1213S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1173						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1173S(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTAAAAAGAAAAATGATAAA	0.289000													3	8					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252962	37252962	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:37252962G>T	ENST00000310758.4	-	12	1579	c.932C>A	c.(931-933)aCc>aAc	p.T311N	ELMO1_ENST00000442504.1_Missense_Mutation_p.T311N|ELMO1_ENST00000448602.1_Missense_Mutation_p.T311N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	311					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T311N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTCCATTTTGGTCATCATCCT	0.502000													24	69					3.6726e-16	4.54819e-16	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731313	21731313	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:21731313G>C	ENST00000584755.1	+	2	1012	c.615G>C	c.(613-615)gcG>gcC	p.A205A	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.A205A(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCGGTACTCTTTC	0.517000													37	97					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305214	23305214	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:23305214C>A	ENST00000358689.4	-	4	626	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.V131L|ENTPD4_ENST00000417069.2_Missense_Mutation_p.V131L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	131					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.V131L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTCATGACCACTGGCTTTCGG	0.448000													33	165					2.42023e-17	3.03747e-17	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110827061	110827061	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:110827061A>T	ENST00000375820.4	-	38	3355	c.3234T>A	c.(3232-3234)ccT>ccA	p.P1078P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1078	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P1078P(2)|p.P721P(2)		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)			CCTTCTCTCCAGGGCTTCCTG	0.517000													110	353					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186473	239186473	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:239186473G>A	ENST00000254657.3	-	2	384	c.105C>T	c.(103-105)agC>agT	p.S35S	PER2_ENST00000355768.2_Silent_p.S35S|PER2_ENST00000440245.1_Silent_p.S35S|PER2_ENST00000254658.3_Silent_p.S35S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	35					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.S35S(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGCCACTGCTCATGTCCA	0.627000													27	138					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323436	31323436	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:31323436T>A	ENST00000269197.5	+	12	3624	c.3624T>A	c.(3622-3624)ccT>ccA	p.P1208P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P915P(2)|p.P1208P(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAACATACCTGTGTCACATT	0.398000													12	59					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60637432	60637432	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:60637432A>T	ENST00000582809.1	+	11	1032	c.329A>T	c.(328-330)tAc>tTc	p.Y110F	TLK2_ENST00000326270.9_Missense_Mutation_p.Y259F|TLK2_ENST00000343388.7_Missense_Mutation_p.Y227F|TLK2_ENST00000346027.5_Missense_Mutation_p.Y259F|TLK2_ENST00000542523.1_Missense_Mutation_p.Y227F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	259					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Y259F(4)|p.Y258F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTAGAGAAATACAAGGAACGA	0.348000													7	52					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													5	137					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802159	34802159	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:34802159C>T	ENST00000192788.5	+	5	675	c.504C>T	c.(502-504)cgC>cgT	p.R168R	UHRF1BP1_ENST00000452449.2_Silent_p.R168R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	168								p.R168R(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTTACCCGCATCACTGACC	0.502000													29	79					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608145	46608145	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:46608145C>A	ENST00000239174.6	-	1	214	c.122G>T	c.(121-123)aGc>aTc	p.S41I	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41I	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTTGCATAGCTGTCAACCGC	0.662000													51	173					9.72345e-25	1.28048e-24	1	1	0
ORC2	4999	broad.mit.edu	37	2	201814323	201814323	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:201814323A>C	ENST00000234296.2	-	5	531	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	94					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.V94V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAAAAGAATAAACTTTATTTC	0.284000													8	37					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73328799	73328799	+	Missense_Mutation	SNP	A	A	C	rs150762903		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:73328799A>C	ENST00000392562.1	-	3	940	c.158T>G	c.(157-159)aTa>aGa	p.I53R	GRB2_ENST00000392563.1_Missense_Mutation_p.I53R|GRB2_ENST00000578961.1_Missense_Mutation_p.I53R|GRB2_ENST00000316615.5_Missense_Mutation_p.I53R|GRB2_ENST00000316804.5_Missense_Mutation_p.I53R|GRB2_ENST00000392564.1_Missense_Mutation_p.I53R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	53	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.I53R(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTTCATTTCTATGTAGTTCTT	0.398000													13	62					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596040	161596040	+	Missense_Mutation	SNP	G	G	A	rs71632958		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:161596040G>A	ENST00000294800.3	-	4	745	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.H158Y|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.H194Y	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	158	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTGGAATGTGGAAGTCAGAA	0.443000													4	117					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359612	51359612	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:51359612G>A	ENST00000360617.3	+	2	163	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	KLK3_ENST00000326003.2_Missense_Mutation_p.V55M|KLK3_ENST00000597483.1_Missense_Mutation_p.V55M|KLK3_ENST00000593997.1_Missense_Mutation_p.V55M|KLK3_ENST00000595952.1_Missense_Mutation_p.V55M			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	55	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.V55M(4)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGGTGTTCTGGTGCACCCCCA	0.632000													63	219					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792844	131792844	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:131792844G>A	ENST00000286355.5	-	18	5640	c.3548C>T	c.(3547-3549)cCa>cTa	p.P1183L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P1052L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P1183L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGTCTTCTTGGGGGCAAGAT	0.512000										HNSCC(32;0.087)			38	138					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855612	12855612	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:12855612T>A	ENST00000332296.7	+	4	995	c.892T>A	c.(892-894)Ttg>Atg	p.L298M	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L53M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	298								p.L298M(4)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CTTGGAGAACTTGGAATTAAC	0.463000													36	138					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493201	33493201	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:33493201C>T	ENST00000254260.3	-	9	1092	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCAGGGCCGCGTAGTGGTGG	0.642000													5	147					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663203	99663203	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:99663203T>A	ENST00000373034.4	-	1	2068	c.393A>T	c.(391-393)gcA>gcT	p.A131A	PCDH19_ENST00000420881.2_Silent_p.A131A|PCDH19_ENST00000255531.7_Silent_p.A131A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	131	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A131A(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGATCTGTGCTGCCGGGAAAC	0.577000													74	333					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421330	116421330	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:116421330G>C	ENST00000281928.3	-	21	4753	c.4547C>G	c.(4546-4548)aCt>aGt	p.T1516S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1516					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.T1516S(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCTGCAGAGTGGCTAAATA	0.473000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	45					0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918921	92918921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:92918921C>A	ENST00000326402.4	-	2	245	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	39					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	p.E39*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTCATGTTCTTCATCTGAT	0.348000													8	17					0.000157383	0.00016722	1	1	0
ERMAP	114625	broad.mit.edu	37	1	43296552	43296552	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:43296552C>T	ENST00000372517.2	+	4	443	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ERMAP_ENST00000372514.3_Missense_Mutation_p.R67W|ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	67	Ig-like V-type.					integral to membrane|plasma membrane		p.R67W(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGTGGCTGCGGTCCCCATT	0.632000													9	38					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76825355	76825355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76825355G>A	ENST00000278559.3	+	5	763	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	CAPN5_ENST00000529629.1_Missense_Mutation_p.G192S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.G232S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	192	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.G192S(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTCACGGGTGGTGTTTCTGA	0.567000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	162	527					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383369	37383369	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:37383369C>A	ENST00000520965.1	-	6	633	c.567G>T	c.(565-567)ctG>ctT	p.L189L	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.L108L	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L108L(2)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTGATTCCAGATCTGAAA	0.313000													5	38					3.59834e-05	3.88953e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62293403	62293403	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:62293403T>A	ENST00000378024.4	-	5	8760	c.8486A>T	c.(8485-8487)cAt>cTt	p.H2829L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2829					nervous system development	nucleus	protein binding	p.H2829L(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTTAAAATGCATCTCTGG	0.428000													70	170					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677924	3677924	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:3677924C>T	ENST00000294600.2	+	5	875	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	264								p.A264V(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAGAGGGAGGCCCTGAAGATG	0.587000													39	148					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	20					0.0135373	0.013758	1	1	0
HOXB1	3211	broad.mit.edu	37	17	46608146	46608146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:46608146T>A	ENST00000239174.6	-	1	213	c.121A>T	c.(121-123)Agc>Tgc	p.S41C	HOXB1_ENST00000577092.1_Missense_Mutation_p.S41C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.S41F(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTGCATAGCTGTCAACCGCC	0.662000													51	174					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465695	41465695	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr21:41465695C>T	ENST00000400454.1	-	21	4280	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1268	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.G1268E(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCCTCTTCCGGCTGAAGT	0.488000													11	30					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:77147419G>A	ENST00000461745.1	+	2	1216	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R|ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	106	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G122R(2)|p.G106R(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTGATGAAGGAAGCTACGT	0.517000													27	92					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962330	69962330	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:69962330C>T	ENST00000305231.7	+	1	138	c.92C>T	c.(91-93)gCa>gTa	p.A31V	UGT2B7_ENST00000508661.1_Missense_Mutation_p.A31V|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	31					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A31V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTGGGCAGCAGAATACAGC	0.428000													15	56					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													5	35					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:1643252A>G	ENST00000399682.1	-	1	116	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	24						keratin filament		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687000													5	92					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408255	107408255	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:107408255G>T	ENST00000334504.7	-	39	4055	c.3822C>A	c.(3820-3822)ccC>ccA	p.P1274P	COL4A6_ENST00000538570.1_Silent_p.P1250P|COL4A6_ENST00000372216.4_Silent_p.P1275P|COL4A6_ENST00000545689.1_Silent_p.P1250P|COL4A6_ENST00000394872.2_Silent_p.P1275P	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1275	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1274P(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGGTCCAGCGGGGCCTGGGC	0.632000									Alport syndrome with Diffuse Leiomyomatosis				18	111					3.73194e-20	4.84634e-20	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39868522	39868522	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:39868522C>T	ENST00000303538.8	-	23	3140	c.2601G>A	c.(2599-2601)atG>atA	p.M867I		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	867					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.M867I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CACTAACCAACATCGCTGATA	0.393000													8	37					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388511	90388511	+	RNA	SNP	C	C	T	rs138191329	byFrequency	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:90388511C>T	ENST00000354530.2	+	0	377					NR_027917.1													p.P126L(2)									AGTATGTTGCCGACAATGGAG	0.458000													33	57					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039011	31039011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:31039011G>T	ENST00000355537.3	+	4	2632	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A829S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCAAGCAAAGCTTCTCTGTT	0.577000													50	193					4.29476e-34	5.86219e-34	1	1	0
SP2	6668	broad.mit.edu	37	17	46002417	46002417	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:46002417G>A	ENST00000376741.4	+	5	1642	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	502					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAGCGGCGCCGCATGGCCTGC	0.627000													4	113					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922448	108922448	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:108922448G>C	ENST00000375887.4	+	1	383	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V69L|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V69L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	69					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	p.V69L(2)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TTTCTACCAGGTGGCCGCCCT	0.662000													79	192					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565414	38565414	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:38565414C>T	ENST00000287675.5	+	6	764	c.668C>T	c.(667-669)gCa>gTa	p.A223V	EXOG_ENST00000358249.2_Missense_Mutation_p.A83V|EXOG_ENST00000422077.2_Missense_Mutation_p.A173V	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	223						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.A223V(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GACAACGTGGCAGTCCCCTCA	0.453000													20	82					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2975964	2975964	+	Silent	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:2975964A>G	ENST00000602557.1	-	43	6945	c.6390T>C	c.(6388-6390)caT>caC	p.H2130H	CSMD1_ENST00000602723.1_Silent_p.H2130H|CSMD1_ENST00000537824.1_Silent_p.H2129H|CSMD1_ENST00000400186.3_Silent_p.H2130H|CSMD1_ENST00000520002.1_Silent_p.H2130H|CSMD1_ENST00000542608.1_Silent_p.H2129H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2130	Sushi 12.					integral to membrane		p.H1858H(2)|p.H2129H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGATCCCATGCTGACAAG	0.443000													19	75					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784148	54784148	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:54784148C>A	ENST00000218436.6	-	8	2388	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	787	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G787C(2)									GATGGAGCACCAGGTTTGGAA	0.547000													58	195					7.10663e-31	9.56072e-31	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789732	133789732	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:133789732G>A	ENST00000321016.8	-	18	4118	c.3888C>T	c.(3886-3888)gaC>gaT	p.D1296D	IGSF9B_ENST00000533871.2_Silent_p.D1296D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1296	Pro-rich.					integral to membrane|plasma membrane		p.D1296D(1)|p.D752D(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCCAAGCTGTCCCCAGGCC	0.677000													11	45					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418997	53418997	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:53418997C>A	ENST00000377942.3	-	3	3114	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G874W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971W(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGTTGGGCCCGCTGCAGGAT	0.577000													26	121					9.86323e-18	1.24623e-17	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140261961	140261961	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:140261961C>T	ENST00000289272.2	+	1	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P36P|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P36P(3)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGTCCCCGAGGAAGCAA	0.657000													103	314					0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731759	53731759	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:53731759C>A	ENST00000248706.3	+	4	752	c.534C>A	c.(532-534)ttC>ttA	p.F178L	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	178	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.F178L(2)		autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GCTGCTCATTCTATGAAGTGT	0.507000													109	419					6.64951e-56	9.14308e-56	1	1	0
TM7SF2	7108	broad.mit.edu	37	11	64882511	64882511	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64882511C>A	ENST00000279263.7	+	7	1012	c.850C>A	c.(850-852)Ccc>Acc	p.P284T	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168T|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCCGCAGCCCCTGGGGTT	0.612000													19	208					1.00905e-13	1.20956e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237819148	237819148	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:237819148G>C	ENST00000366574.2	+	53	8310	c.7993G>C	c.(7993-7995)Gca>Cca	p.A2665P	RYR2_ENST00000542537.1_Missense_Mutation_p.A2649P|RYR2_ENST00000360064.6_Missense_Mutation_p.A2663P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2665	4 X approximate repeats.|Modulator (Potential).				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	p.A2663P(2)		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)			TTTCAAACTGGCACTGCCTTG	0.408000													5	8					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330766	39330766	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:39330766A>G	ENST00000594769.1	-	1	52	c.53T>C	c.(52-54)aTg>aCg	p.M18T	HNRNPL_ENST00000221419.5_Silent_p.N401N|HNRNPL_ENST00000600873.1_Silent_p.N268N														p.N401N(2)|p.N268N(2)									AGCAGAAGACATTGAAGACTC	0.572000													44	156					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865249	6865249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:6865249C>G	ENST00000307659.5	+	7	3595	c.3140C>G	c.(3139-3141)cCa>cGa	p.P1047R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1047R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1047							ATP binding	p.P1047R(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTAAGCAATCCATTTTCACAA	0.383000													23	70					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127818229	127818229	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:127818229T>A	ENST00000336505.5	-	3	214	c.156A>T	c.(154-156)ccA>ccT	p.P52P	SCAI_ENST00000373549.4_Silent_p.P75P	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	52	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.P75P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TCTCTCCCTGTGGGATATCAT	0.378000													16	28					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178571	31178571	+	Silent	SNP	G	G	T	rs145356432		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:31178571G>T	ENST00000349752.5	-	6	1206	c.567C>A	c.(565-567)atC>atA	p.I189I	GALNT14_ENST00000420311.2_Silent_p.I154I|GALNT14_ENST00000406653.1_Silent_p.I169I|GALNT14_ENST00000324589.5_Silent_p.I194I|GALNT14_ENST00000356174.3_Silent_p.I156I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	189	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I189I(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTGGGCGATGTCAGCGC	0.602000													33	134					6.00712e-18	7.64171e-18	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139407481	139407481	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:139407481G>A	ENST00000277541.6	-	15	2534	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	820	EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P820L(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTGTGTAGGGCAGCAGGCA	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			38	74					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973554	29973554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:29973554G>T	ENST00000378993.1	+	11	2381	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.E570*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	570	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E570*(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATTACACATGAGCAGGCTTT	0.488000													15	53					6.81908e-15	8.33443e-15	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105833976	105833976	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:105833976G>A	ENST00000353479.5	-	6	635	c.345C>T	c.(343-345)ggC>ggT	p.G115G	COL17A1_ENST00000369733.3_Silent_p.G115G|COL17A1_ENST00000393211.3_Silent_p.G115G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	115	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G115G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAAGAGTTGCCACTGGAGC	0.478000													35	178					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:35922941G>T	ENST00000490799.1	-	17	2573	c.2220C>A	c.(2218-2220)gtC>gtA	p.V740V	SLC26A8_ENST00000394602.2_Silent_p.V635V|SLC26A8_ENST00000355574.2_Silent_p.V740V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	740	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512000													45	229					9.9998e-32	1.35504e-31	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244104	42244104	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:42244104G>T	ENST00000327628.5	+	13	2004	c.1604G>T	c.(1603-1605)aGc>aTc	p.S535I	TRAK1_ENST00000396175.1_Missense_Mutation_p.S477I|TRAK1_ENST00000449246.1_Missense_Mutation_p.S461I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.S477I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	535					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.S477I(4)|p.S535I(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGCTGCGCAGCGGCTCCCTC	0.637000													18	103					9.95505e-16	1.22473e-15	1	1	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													6	292					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:31876897G>T	ENST00000396184.3	-	12	1304	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	PDE1C_ENST00000396193.1_Missense_Mutation_p.A427D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A367D|PDE1C_ENST00000396182.2_Missense_Mutation_p.A367D|PDE1C_ENST00000396191.1_Missense_Mutation_p.A367D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A367D(4)|p.A427D(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAGGGATAAGGCTTTTGGCTT	0.408000													9	33					9.70103e-10	1.12677e-09	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047658	46047658	+	Silent	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr21:46047658T>A	ENST00000397911.3	+	1	619	c.570T>A	c.(568-570)ccT>ccA	p.P190P	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	190	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.P190P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGTAAGCCTGTCTGCTGCA	0.592000													177	690					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117098010	117098010	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:117098010G>C	ENST00000320934.3	-	5	1262	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	211	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	p.S211C(2)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGGTCATTAGAGTTGAGGTC	0.557000			T	IGH@	MLCLS								45	202					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22587979	22587979	+	RNA	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:22587979T>A	ENST00000550753.1	+	0	2454					NR_003676.2																						CCCTGCTGGTTCTAATGGCCA	0.527000													14	143					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371718	76371718	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76371718C>T	ENST00000407242.2	-	3	1161	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	LRRC32_ENST00000404995.1_Missense_Mutation_p.G307R|LRRC32_ENST00000260061.5_Missense_Mutation_p.G307R|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	307						integral to plasma membrane		p.G307R(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGCATTCCCGCTGGGGGCT	0.622000													21	52					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025069	84025069	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:84025069C>T	ENST00000369705.3	-	6	780	c.664G>A	c.(664-666)Gat>Aat	p.D222N	ME1_ENST00000543031.1_Missense_Mutation_p.D147N|ME1_ENST00000541327.1_Missense_Mutation_p.D56N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	222					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D222N(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAAAAATCATCATATTCAGAA	0.299000													5	27					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23985107	23985107	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:23985107C>A	ENST00000238789.5	-	24	3709	c.3366G>T	c.(3364-3366)gtG>gtT	p.V1122V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1122							ATP binding|nucleoside-triphosphatase activity	p.V1122V(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGTGCCACACATCCATTG	0.393000													3	31					0.115264	0.11651	1	1	0
PZP	5858	broad.mit.edu	37	12	9303303	9303303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:9303303G>T	ENST00000261336.2	-	34	4349	c.4321C>A	c.(4321-4323)Caa>Aaa	p.Q1441K	PZP_ENST00000381997.2_Missense_Mutation_p.Q1227K	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.Q1441K(2)|p.Q1227K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGATGTCTTGCAGAACCATG	0.403000													7	30					0.000274275	0.000288143	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	112	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677000													8	64					4.4004e-07	4.95708e-07	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:55143640C>A	ENST00000396331.1	+	6	970	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	LILRB1_ENST00000396315.1_Missense_Mutation_p.P205T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGAACTCTCCCTATGAGTG	0.607000										HNSCC(37;0.09)			51	203					5.82388e-19	7.5108e-19	1	1	0
CAPN5	726	broad.mit.edu	37	11	76829344	76829344	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76829344G>C	ENST00000278559.3	+	8	1302	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CAPN5_ENST00000529629.1_Missense_Mutation_p.Q371H|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q411H	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	371	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.Q371H(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCGCGACAGAACCGCGGTG	0.642000													13	51					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230372	77230372	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:77230372G>T	ENST00000237642.6	+	2	1040	c.296G>T	c.(295-297)aGa>aTa	p.R99I	FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1												p.R99I(2)									GCATCATGGAGATTGCAGAAT	0.418000													30	85					1.75199e-13	2.08676e-13	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805391	54805391	+	Missense_Mutation	SNP	G	G	T	rs146327371		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:54805391G>T	ENST00000306858.7	+	5	1738	c.1622G>T	c.(1621-1623)cGt>cTt	p.R541L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCGGCTTCGTTCCTCTTTA	0.418000													8	44					7.48243e-07	8.37853e-07	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1629958	1629958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:1629958G>A	ENST00000381580.1	-	2	250	c.71C>T	c.(70-72)tCc>tTc	p.S24F	SIRPG_ENST00000344103.4_Missense_Mutation_p.S57F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S57F|SIRPG_ENST00000303415.3_Missense_Mutation_p.S57F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S57F			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	57					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.S57F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGAAGCAGGGAGGTCACAGT	0.537000													23	126					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64879032	64879032	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64879032G>A	ENST00000279281.3	+	10	2414	c.2322G>A	c.(2320-2322)gtG>gtA	p.V774V	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)									p.V774V(2)									AGCCCAGTGTGGTTGAGGTCA	0.652000													19	52					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72178676	72178676	+	RNA	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:72178676T>C	ENST00000438125.1	-	0	886							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GGGTACATTATTGGTTCTCCC	0.473000													16	32					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23547389	23547389	+	Silent	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr14:23547389C>G	ENST00000262710.1	-	8	2595	c.2268G>C	c.(2266-2268)ctG>ctC	p.L756L	ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000555053.1_Silent_p.L756L|ACIN1_ENST00000457657.1_Silent_p.L716L|ACIN1_ENST00000605057.1_Silent_p.L698L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	756					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.L756L(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGATTCTGGCAGATGAGAGG	0.507000													53	140					0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116000	129116000	+	RNA	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:129116000A>G	ENST00000514355.1	-	0	412																				lung(1)	1						GGGAAGAAGTAGCCCCAGGTG	0.542000													7	346					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13421115	13421115	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:13421115C>A	ENST00000254508.5	-	7	1006	c.924G>T	c.(922-924)tcG>tcT	p.S308S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	308					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGTGACCATCGACGTGTCCT	0.607000													4	191					0.150653	0.151463	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114388965	114388965	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:114388965A>T	ENST00000343508.3	-	2	229		c.e2+1		CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(2)		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						CAGGATATCTACCTGAGGCTG	0.552000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	111					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603225	26603225	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:26603225A>G	ENST00000252992.4	+	13	2233	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	CEP85_ENST00000451429.2_Missense_Mutation_p.N650S|CEP85_ENST00000469609.1_3'UTR	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	701						centrosome|nucleolus|spindle pole		p.N701S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGACCCCAATCTCTCCCTG	0.592000													13	62					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs141887475	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:33493188T>A	ENST00000254260.3	-	9	1105	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647000													5	137					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826613	76826613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76826613G>A	ENST00000278559.3	+	6	1061	c.872G>A	c.(871-873)tGg>tAg	p.W291*	CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W291*|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W331*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	291	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.W291*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GAGCGGGAGTGGAACGGGCCC	0.652000													7	30					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44891010	44891010	+	Silent	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr15:44891010G>C	ENST00000261866.7	-	22	3727	c.3711C>G	c.(3709-3711)gcC>gcG	p.A1237A	SPG11_ENST00000535302.2_Silent_p.A1237A|SPG11_ENST00000558319.1_Silent_p.A1237A|SPG11_ENST00000427534.2_Silent_p.A1237A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1237					cell death	cytosol|integral to membrane|nucleus	protein binding	p.A1237A(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTATAACATAGGCTTCATTGC	0.408000													18	49					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183867	89183867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:89183867G>C	ENST00000295908.6	-	7	1388	c.999C>G	c.(997-999)taC>taG	p.Y333*		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	333	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.Y333*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CCTCAGTACCGTACTGTATTG	0.418000													12	43					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037127	80037127	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:80037127G>A	ENST00000306749.2	-	43	7646	c.7428C>T	c.(7426-7428)gtC>gtT	p.V2476V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2476	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.V2476V(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCCTCGATGACGTGGACGG	0.662000													39	151					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671907	45671907	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:45671907G>T	ENST00000308064.2	-	4	1237	c.567C>A	c.(565-567)aaC>aaA	p.N189K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	189					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.N189K(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGGTCAGGTTGAGTAGCC	0.721000													13	62					7.93312e-07	8.83032e-07	1	1	0
DSG1	1828	broad.mit.edu	37	18	28908187	28908187	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:28908187A>T	ENST00000257192.4	+	4	464	c.252A>T	c.(250-252)acA>acT	p.T84T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	84	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.T84T(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAAGTTACATACCGCATCT	0.373000													8	34					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53810712	53810712	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:53810712T>C	ENST00000288139.3	+	37	4623	c.4505T>C	c.(4504-4506)tTa>tCa	p.L1502S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.L374S|CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1482S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1467S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1482					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1502S(2)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTCACCATTTAGATGAATTC	0.403000													42	166					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76830106	76830106	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76830106G>A	ENST00000278559.3	+	9	1387	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CAPN5_ENST00000529629.1_Missense_Mutation_p.E400K|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.E440K	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	400	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.E400K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCCAGAAGATGAAGTCCTGAT	0.577000													14	36					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39479863	39479863	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:39479863C>A	ENST00000407997.3	+	5	1066	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.Q237K	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G									p.Q237K(4)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTGCTGAACCAGCGCAGGGG	0.572000													31	113					4.31634e-10	5.04472e-10	1	1	0
PRNT	149830	broad.mit.edu	37	20	4713162	4713162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:4713162A>T	ENST00000326539.2	-	2	1098	c.161T>A	c.(160-162)tTa>tAa	p.L54*	PRNT_ENST00000423718.2_Nonsense_Mutation_p.L54*|PRNT_ENST00000418528.1_Nonsense_Mutation_p.L54*														p.L54*(4)		endometrium(2)|lung(5)	7						cagaaaggataatggccatgc	0.483000													6	31					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554286	41554286	+	Silent	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:41554286A>T	ENST00000396942.1	-	25	2726	c.2643T>A	c.(2641-2643)tcT>tcA	p.S881S	ANK1_ENST00000379758.2_Silent_p.S881S|ANK1_ENST00000265709.8_Silent_p.S922S|ANK1_ENST00000352337.4_Silent_p.S881S|ANK1_ENST00000396945.1_Silent_p.S881S|ANK1_ENST00000289734.7_Silent_p.S881S|ANK1_ENST00000347528.4_Silent_p.S881S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	881					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S881S(2)|p.S922S(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATACTCTTTAGATGCCTGAG	0.632000													18	61					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	58					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985341	108985341	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:108985341C>T	ENST00000406360.1	+	2	1648	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	FOXO3_ENST00000343882.6_Silent_p.F435F|FOXO3_ENST00000540898.1_Silent_p.F215F	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	435					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.F435F(2)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GCACGGTGTTCGGACCTTCAT	0.572000													6	364					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40054003	40054003	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:40054003G>T	ENST00000373233.3	-	29	4338	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1387					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.P1387P(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAACTGGCCAGGGCGATTTGT	0.512000													14	36					4.7546e-09	5.48834e-09	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125877379	125877379	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:125877379C>A	ENST00000393434.2	-	3	580	c.231G>T	c.(229-231)ggG>ggT	p.G77G	ALDH1L1_ENST00000393431.2_Silent_p.G77G|ALDH1L1_ENST00000273450.3_Silent_p.G87G|ALDH1L1_ENST00000472186.1_Silent_p.G77G|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000452905.2_Silent_p.G77G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	77	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G77G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGCTCGGCCCCCAAAGCCT	0.567000													33	143					9.21846e-06	1.00224e-05	1	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													7	67					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6479157	6479157	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:6479157C>A	ENST00000344683.5	+	13	2473	c.2397C>A	c.(2395-2397)ccC>ccA	p.P799P	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	799	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCATCGGGCCCTACAGCGGAA	0.587000													4	207					1	1	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54919343	54919343	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:54919343G>T	ENST00000474759.1	+	22	1996	c.1948G>T	c.(1948-1950)Gca>Tca	p.A650S	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A650S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A650S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A556S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	650						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A650S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGTGTCCTTGGCAGATGAATG	0.493000													17	83					1.87028e-06	2.06948e-06	1	1	0
GALT	2592	broad.mit.edu	37	9	34648858	34648858	+	Missense_Mutation	SNP	C	C	T	rs111033762		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:34648858C>T	ENST00000378842.3	+	8	829	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.R154W	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	263			Missing (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	p.R263W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCATGTGCGGCGGCTACCTGA	0.607000									Galactosemia				7	108					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26570005	26570005	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr10:26570005G>C	ENST00000376261.3	+	12	1728	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	GAD2_ENST00000259271.3_Missense_Mutation_p.V409L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	409					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V409L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGCTCTCCTGGTTAGAGAAGA	0.488000													29	132					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:154858045G>T	ENST00000460393.1	+	10	1041	c.921G>T	c.(919-921)caG>caT	p.Q307H	MME_ENST00000492661.1_Missense_Mutation_p.Q307H|MME_ENST00000493237.1_Missense_Mutation_p.Q307H|MME_ENST00000462745.1_Missense_Mutation_p.Q307H|MME_ENST00000360490.2_Missense_Mutation_p.Q307H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q307H(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTGGCCCAGATCCAAAATA	0.323000													3	18					1.024e-07	1.17477e-07	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885786	88885786	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr8:88885786C>A	ENST00000319675.3	-	1	510	c.414G>T	c.(412-414)ttG>ttT	p.L138F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	138								p.L138F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGGGAATCCAAGTGATTCA	0.562000													46	170					6.68952e-21	8.74783e-21	1	1	0
CR1L	1379	broad.mit.edu	37	1	207890965	207890965	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:207890965G>A	ENST00000508064.2	+	11	1631	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	524	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACCATCCGCCGCACAAGTGAA	0.522000													4	216					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008919	120008919	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:120008919G>T	ENST00000371311.3	-	1	860	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	202								p.V202V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CAGGCTCTGGGACCGACGCGG	0.706000													48	175					5.57489e-27	7.39365e-27	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48700726	48700726	+	Silent	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:48700726G>A	ENST00000557021.1	-	7	1066	c.906C>T	c.(904-906)ccC>ccT	p.P302P	UBE2V1_ENST00000371674.3_Silent_p.P79P|UBE2V1_ENST00000371677.3_Silent_p.P102P|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Silent_p.P102P|UBE2V1_ENST00000415862.2_Silent_p.P35P|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.P302P|UBE2V1_ENST00000420027.2_Silent_p.P35P	NM_199203.2	NP_954673.1			transmembrane protein 189									p.P102P(2)|p.P302P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTACAAAGGGGGGTGCTTCTG	0.358000													47	117					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375459	65375459	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:65375459C>T	ENST00000309100.3	-	3	1488	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	MAP3K11_ENST00000530153.1_Missense_Mutation_p.A78T	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	335	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.A335T(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TTGTTAACAGCTACGCCATAG	0.607000													31	114					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	20					0.0135373	0.013758	1	1	0
CAPN5	726	broad.mit.edu	37	11	76826625	76826625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76826625G>A	ENST00000278559.3	+	6	1073	c.884G>A	c.(883-885)tGg>tAg	p.W295*	CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W295*|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W335*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	295	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.W295*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGGGCCCTGGAGTGACACG	0.662000													5	26					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524453	73524453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:73524453C>A	ENST00000339534.2	+	1	429	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	118							nucleic acid binding|zinc ion binding	p.L118I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TTGCGGCAAACTTGGGCACAT	0.542000													39	100					1.60099e-16	1.9959e-16	1	1	0
CASR	846	broad.mit.edu	37	3	122003109	122003109	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:122003109C>A	ENST00000498619.1	+	7	2776	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	CASR_ENST00000296154.5_Missense_Mutation_p.L770I|CASR_ENST00000490131.1_Missense_Mutation_p.L770I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	770					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGGGCTCCCTCATGGCCCT	0.582000													20	82					2.21704e-12	2.60746e-12	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	43					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221917	44221917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:44221917C>T	ENST00000330884.4	-	7	939	c.819G>A	c.(817-819)atG>atA	p.M273I	SULT4A1_ENST00000540422.1_Missense_Mutation_p.M160I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.M273I(2)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CACACTTTCCCATCTTCTGTT	0.418000													31	168					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826513	76826513	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:76826513G>A	ENST00000278559.3	+	6	961	c.772G>A	c.(772-774)Gat>Aat	p.D258N	CAPN5_ENST00000529629.1_Missense_Mutation_p.D258N|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.D298N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	258	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.D258N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCGTCACTGATGTGCGCAA	0.642000													19	53					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839373	233839373	+	Silent	SNP	C	C	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:233839373C>T	ENST00000264051.3	-	2	506	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	76	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.K76K(4)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTCTCTGGCCTTGGCTTTGC	0.512000													86	369					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388726	80388726	+	Silent	SNP	A	A	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:80388726A>C	ENST00000265080.4	+	10	1564	c.1497A>C	c.(1495-1497)acA>acC	p.T499T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	499	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.T499T(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTATTTACAAAACACTTTT	0.388000													20	62					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr14:20404500C>A	ENST00000285600.4	+	1	734	c.675C>A	c.(673-675)gtC>gtA	p.V225V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATCGGTGTCCGATGCAGGT	0.418000													12	58					3.07112e-06	3.35847e-06	1	1	0
DAW1	164781	broad.mit.edu	37	2	228750068	228750068	+	Splice_Site	SNP	A	A	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr2:228750068A>T	ENST00000373666.2	+	2	678	c.40_splice	c.e2-1	p.G14_splice	DAW1_ENST00000545118.1_5'UTR|DAW1_ENST00000309931.2_Splice_Site_p.G14_splice					dynein assembly factor with WDR repeat domains 1									p.G14G(2)									TTTCTATAGGAATTATGTTGG	0.303000													12	38					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882512	64882512	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:64882512C>A	ENST00000279263.7	+	7	1013	c.851C>A	c.(850-852)cCc>cAc	p.P284H	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P168H|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P284H	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P284N(2)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCGCAGCCCCTGGGGTTG	0.612000													19	207					1.00905e-13	1.20956e-13	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175617	57175617	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:57175617T>C	ENST00000537055.2	-	2	1181	c.950A>G	c.(949-951)cAg>cGg	p.Q317R		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.Q339R(2)|p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAGGCGCTCTGGCTGAAGAG	0.701000													6	19					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89931018	89931018	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:89931018G>A	ENST00000405460.2	+	10	2023	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	643					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V643I(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTTTACTGGTTACTCCAGC	0.378000													14	41					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110570411	110570411	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:110570411A>G	ENST00000242591.5	+	5	995	c.489A>G	c.(487-489)atA>atG	p.I163M	IFT81_ENST00000361948.4_Missense_Mutation_p.I163M|IFT81_ENST00000552912.1_Missense_Mutation_p.I163M	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	163					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.I163M(4)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTCAAGATATCTGGATTTT	0.259000													9	14					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:55563901G>T	ENST00000335605.1	+	1	870	c.870G>T	c.(868-870)ctG>ctT	p.L290L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L290L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408000													8	25					0.000442599	0.00046238	1	1	0
BCL2	596	broad.mit.edu	37	18	60985890	60985890	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr18:60985890C>G	ENST00000398117.1	-	1	1471	c.10G>C	c.(10-12)Gct>Cct	p.A4P	BCL2_ENST00000444484.1_Missense_Mutation_p.A4P|BCL2_ENST00000589955.1_Missense_Mutation_p.A4P|BCL2_ENST00000333681.4_Missense_Mutation_p.A4P	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	4					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.A4P(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTTCTCCCAGCGTGCGCCATC	0.587000			T	IGH@	"""NHL, CLL"""								25	124					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002719	3002719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:3002719G>T	ENST00000216877.6	+	14	1554	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	PTPRA_ENST00000358719.4_Missense_Mutation_p.R250I|PTPRA_ENST00000425918.2_Missense_Mutation_p.R405I|PTPRA_ENST00000380393.3_Missense_Mutation_p.R394I|PTPRA_ENST00000399903.2_Missense_Mutation_p.R394I|PTPRA_ENST00000318266.5_Missense_Mutation_p.R385I|PTPRA_ENST00000356147.3_Missense_Mutation_p.R385I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	394	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R394I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGACCAACAGAAAGCCACAG	0.567000													7	138					8.12818e-05	8.73546e-05	1	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													4	131					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56536674	56536674	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:56536674T>A	ENST00000245157.5	-	8	1271	c.851A>T	c.(850-852)aAt>aTt	p.N284I	BBS2_ENST00000568104.1_Missense_Mutation_p.N284I|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	284					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.N284I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AGAAGAAAAATTGTCCTTAAA	0.418000									Bardet-Biedl syndrome				5	120					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48339978	48339978	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:48339978G>T	ENST00000421967.1	-	2	98	c.53C>A	c.(52-54)gCt>gAt	p.A18D	ZNF589_ENST00000412564.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.A10D|NME6_ENST00000451657.1_Missense_Mutation_p.A10D|NME6_ENST00000447314.1_Intron|NME6_ENST00000444069.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.A10D|NME6_ENST00000450160.1_Missense_Mutation_p.A10D|NME6_ENST00000426723.1_Missense_Mutation_p.A10D|NME6_ENST00000415644.1_Missense_Mutation_p.A10D|NME6_ENST00000415053.1_Missense_Mutation_p.A10D|NME6_ENST00000452211.1_Missense_Mutation_p.A10D|NME6_ENST00000435684.1_Missense_Mutation_p.A10D	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	10					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCTGGAGAGCCTGAGGGCT	0.547000													3	43					0.004672	0.00480035	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159410483	159410483	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:159410483G>A	ENST00000423932.3	+	1	972	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	312					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.C312Y(2)|p.C312F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GATGCTCTGTGCAGGGCTGTT	0.483000													19	77					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19961381	19961381	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:19961381C>A	ENST00000295824.9	-	3	1101	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.D184Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	314					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.D314Y(2)|p.D312Y(2)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATCTGGGGATCATTTGCTCTT	0.333000													16	77					0.00121646	0.00125679	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													9	804	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													9	782	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													10	580	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525													11	639	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(40-45)ctccccfs	p.LP14fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCGCTTACCTGCCCCCCCTGCA	0.569													11	154	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	512	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													7	1239	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								7	307	---	---	---	---					
ARHGAP29	9411	broad.mit.edu	37	1	94668130	94668131	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:94668130_94668131insT	ENST00000260526.6	-	11	1294_1295	c.1112_1113insA	c.(1111-1113)acgfs	p.T371fs	ARHGAP29_ENST00000370217.3_Frame_Shift_Ins_p.T371fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	371					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAACCTTCGCTTTTTTTCTAG	0.396													10	330	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													45	571	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													10	433	---	---	---	---					
SPRR2F	6705	broad.mit.edu	37	1	153085120	153085121	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:153085120_153085121insG	ENST00000468739.1	-	2	149_150	c.89_90insC	c.(88-90)caafs	p.Q30fs	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	30	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.624													8	840	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													7	1005	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				16	233	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													15	2292	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													8	440	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													38	1567	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576756	158576757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:158576756_158576757insT	ENST00000361284.1	+	1	528_529	c.528_529insT	c.(526-531)cattttfs	p.HF176fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AAATCCAGCACTTTTTTTGTGA	0.490													9	776	---	---	---	---					
SCYL3	57147	broad.mit.edu	37	1	169823691	169823692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:169823691_169823692insC	ENST00000367772.4	-	13	2085_2086	c.1888_1889insG	c.(1888-1890)tgafs	p.*630fs	SCYL3_ENST00000367771.5_Frame_Shift_Ins_p.*576fs|SCYL3_ENST00000367770.1_Frame_Shift_Ins_p.*630fs	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	630	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTGCGTCATCCCCCCTTTGT	0.465													11	534	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(109-114)ctggggfs	p.LG37fs	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	37					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGATGACCTTGGGGGGCTGTG	0.530													7	483	---	---	---	---					
DNM3	26052	broad.mit.edu	37	1	172017884	172017885	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:172017884_172017885insA	ENST00000358155.4	+	10	1505_1506	c.1329_1330insA	c.(1327-1332)acaaaafs	p.TK443fs	DNM3_ENST00000367731.1_Frame_Shift_Ins_p.TK443fs|DNM3_ENST00000355305.5_Frame_Shift_Ins_p.TK443fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.TK443fs|DNM3_ENST00000367733.2_Frame_Shift_Ins_p.TK443fs	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	443					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.T443T(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGAAGTGTACCAAAAAAGTAAG	0.376													8	2451	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													8	618	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													7	702	---	---	---	---					
BRINP3	339479	broad.mit.edu	37	1	190067582	190067583	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:190067582_190067583insA	ENST00000367462.3	-	8	2097_2098	c.1866_1867insT	c.(1864-1869)ttagacfs	p.LD622fs	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Ins_p.LD520fs	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		622						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTACTGTCTCAAAAAATGTCT	0.446													7	1397	---	---	---	---					
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)cccfs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505													7	463	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													16	527	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													11	213	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													10	796	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													9	784	---	---	---	---					
OR2T4	127074	broad.mit.edu	37	1	248525147	248525148	+	Frame_Shift_Ins	INS	-	-	C	rs143060693		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:248525147_248525148insC	ENST00000366475.1	+	1	265_266	c.265_266insC	c.(265-267)cccfs	p.P89fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CCACCTCCACACCCCCATGTAC	0.485													8	2091	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													10	471	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													8	534	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													7	533	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													8	408	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													7	418	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													10	165	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													16	433	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													8	326	---	---	---	---					
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196281	+	Splice_Site	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:179196280_179196281insT	ENST00000190611.4	+	6	696_697	c.318_splice	c.e6-1	p.L107_splice	OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice|OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTCC	0.361													8	490	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													7	171	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													10	228	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													7	388	---	---	---	---					
UGT1A4	54657	broad.mit.edu	37	2	234627976	234627977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:234627976_234627977insT	ENST00000373409.3	+	1	553_554	c.510_511insT	c.(508-513)gtttttfs	p.VF170fs	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TTCCTGCTGTGTTTTTTTGGAG	0.455													10	647	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													15	302	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								11	170	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.550													7	241	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	81	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				9	758	---	---	---	---					
SCN10A	6336	broad.mit.edu	37	3	38739682	38739683	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:38739682_38739683insG	ENST00000449082.2	-	27	5027_5028	c.5028_5029insC	c.(5026-5031)ccactgfs	p.L1677fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1677					sensory perception	voltage-gated sodium channel complex		p.Y1677fs*21(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGTCACAGTAGGGGGGCCCTG	0.589													9	338	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													9	248	---	---	---	---					
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)gggfs	p.G488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589													9	129	---	---	---	---					
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cccfs	p.P348fs	SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.530													8	799	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1291-1296)aaggggfs	p.KG431fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	431	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCTCAACGGGGGGGACCT	0.604													7	425	---	---	---	---					
TKT	7086	broad.mit.edu	37	3	53264635	53264635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53264635delT	ENST00000462138.1	-	8	1033	c.945delA	c.(943-945)atfs	p.I315fs	TKT_ENST00000423516.1_Frame_Shift_Del_p.I323fs|TKT_ENST00000296289.6_Frame_Shift_Del_p.I268fs|TKT_ENST00000423525.2_Frame_Shift_Del_p.I315fs|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	315					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TGCGGGTGGCTATCTGTGAGG	0.607													9	28	---	---	---	---					
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:56789130_56789131insG	ENST00000413728.2	-	3	814_815	c.271_272insC	c.(271-273)accfs	p.T91fs	ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579													10	325	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													11	489	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													9	126	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		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						GTTGACAGCCGTTTTTTGGATC	0.406													9	1127	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													10	607	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													10	649	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1005)gccfs	p.A335fs	MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGCC	0.584													10	120	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													7	464	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:15995680delT	ENST00000505450.1	-	15	2282	c.1670delA	c.(1669-1671)atfs	p.N557fs	PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													7	377	---	---	---	---					
PPARGC1A	10891	broad.mit.edu	37	4	23833202	23833203	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:23833202_23833203insG	ENST00000264867.2	-	3	525_526	c.406_407insC	c.(406-408)ggafs	p.G136fs	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	136					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTCTGCCTCCTGGGGTGGAGGG	0.540													7	993	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													12	1062	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													11	568	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													14	529	---	---	---	---					
MTTP	4547	broad.mit.edu	37	4	100540140	100540140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:100540140delT	ENST00000457717.1	+	17	2483	c.2227delT	c.(2227-2229)tafs	p.L743fs	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L770fs|MTTP_ENST00000265517.5_Frame_Shift_Del_p.L743fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	743					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGAACTTCAGTTACAATCTGG	0.363													46	127	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110920983	110920984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:110920983_110920984insG	ENST00000265171.5	+	21	3599_3600	c.3154_3155insG	c.(3154-3156)gggfs	p.G1052fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.G1010fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.G1011fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1052					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTGAGCCTGTGGGGGGCCCAC	0.584													9	635	---	---	---	---					
TTC39CP1	100288825	broad.mit.edu	37	4	117115862	117115863	+	RNA	INS	-	-	T	rs142004885	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:117115862_117115863insT	ENST00000509983.1	-	0	333																											TCTCAGACGTATTGCAAGTTCC	0.376													14	37	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									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						TTTTCTGATTTCCCCCCTTTAC	0.391													8	573	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144361498	144361499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:144361498_144361499insC	ENST00000262995.4	+	6	1975_1976	c.1548_1549insC	c.(1546-1551)ccccccfs	p.PP516fs	GAB1_ENST00000505913.1_Frame_Shift_Ins_p.PP413fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.PP516fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	516	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACTGTGAACCACCCCCCGTGGA	0.515													8	301	---	---	---	---					
SH3D19	152503	broad.mit.edu	37	4	152095943	152095944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:152095943_152095944insG	ENST00000409598.4	-	7	1739_1740	c.572_573insC	c.(571-573)cgtfs	p.R191fs	SH3D19_ENST00000409252.2_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.R191fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	191	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GAACTGGAACTGGGGGGTTGGC	0.559													7	785	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													8	282	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			10	1280	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (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)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				8	557	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487951	24487952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:24487951_24487952insG	ENST00000264463.4	-	12	2694_2695	c.2187_2188insC	c.(2185-2190)ccacgafs	p.R730fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTGAGTCGTAGGGGGGTGCGG	0.460										HNSCC(23;0.051)			7	520	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40853093	40853094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:40853093_40853094insT	ENST00000254691.5	+	3	1858_1859	c.1659_1660insT	c.(1657-1662)gtttttfs	p.VF553fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	553					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCAGCTGTGTTTTTTTTCAC	0.416													8	392	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													11	239	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													9	180	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111519753	111519754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:111519753_111519754insT	ENST00000261486.5	-	18	1857_1858	c.1581_1582insA	c.(1579-1584)caccgafs	p.HR527fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	527						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGGGTCGGCTTGGTTTTTTT	0.431													7	542	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													14	502	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													8	1476	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:141242814_141242815insG	ENST00000287008.3	-	3	3228_3229	c.3081_3082insC	c.(3079-3084)ccaatafs	p.I1028fs	PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634													8	103	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													7	205	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													8	1170	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													7	808	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)ccaattfs	p.I2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505													7	224	---	---	---	---					
SGCD	6444	broad.mit.edu	37	5	155935709	155935710	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr5:155935709_155935710delAC	ENST00000435422.3	+	3	775_776	c.288_289delAC	c.(286-291)cgcafs	p.RP96fs	SGCD_ENST00000447401.1_Frame_Shift_Del_p.RP97fs|SGCD_ENST00000337851.4_Frame_Shift_Del_p.RP97fs|SGCD_ENST00000517913.1_Frame_Shift_Del_p.RP97fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	96			R -> Q (in dbSNP:rs1801194).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAGTCCCGACCAGTAAGTTT	0.436													24	122	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													10	498	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													13	325	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													9	259	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													31	2205	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													12	277	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													8	166	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													7	211	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													7	182	---	---	---	---					
HLA-DMA	3108	broad.mit.edu	37	6	32917122	32917123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:32917122_32917123insC	ENST00000374843.4	-	4	791_792	c.706_707insG	c.(706-708)cttfs	p.L236fs	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Frame_Shift_Ins_p.L141fs|HLA-DMA_ENST00000395303.3_Frame_Shift_Ins_p.L202fs	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	236						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						CAGGCCAAAGGCCACGCCACAC	0.589													11	131	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000450514.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000427196.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													12	182	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													11	1381	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	129	---	---	---	---					
STK38	11329	broad.mit.edu	37	6	36463592	36463593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:36463592_36463593insC	ENST00000229812.7	-	14	1651_1652	c.1366_1367insG	c.(1366-1368)aatfs	p.N456fs		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	456					intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGGTATTGCCCCCCTTGCA	0.455													7	389	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	353	---	---	---	---					
ZUFSP	221302	broad.mit.edu	37	6	116967057	116967058	+	Frame_Shift_Ins	INS	-	-	T	rs141299898	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:116967057_116967058insT	ENST00000368576.3	-	9	1751_1752	c.1508_1509insA	c.(1507-1509)acgfs	p.T503fs		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	503						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCTC	0.337													10	593	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													24	619	---	---	---	---					
HEPACAM2	253012	broad.mit.edu	37	7	92838073	92838074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:92838073_92838074insG	ENST00000394468.2	-	4	908_909	c.831_832insC	c.(829-834)ccacacfs	p.H278fs	HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.H301fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.H266fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.H266fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	278	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAGTAGGTGTTGGGGGGATGAG	0.431													8	267	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													7	406	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													14	856	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													7	543	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	505	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:35584019_35584020insG	ENST00000287272.2	+	9	1466_1467	c.1446_1447insG	c.(1444-1449)ttggggfs	p.LG482fs	UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	551					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411													7	739	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													7	78	---	---	---	---					
RECK	8434	broad.mit.edu	37	9	36112460	36112461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:36112460_36112461insA	ENST00000377966.3	+	16	2613_2614	c.2047_2048insA	c.(2047-2049)aaafs	p.K683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416													7	86	---	---	---	---					
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:77377691_77377692insC	ENST00000451710.3	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)actfs	p.T1299fs	TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.480													8	412	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													9	386	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													9	506	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													11	443	---	---	---	---					
CDK9	1025	broad.mit.edu	37	9	130550969	130550969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr9:130550969delG	ENST00000373265.2	+	6	1102	c.1102delG	c.(1102-1104)agfs	p.E368fs	CDK9_ENST00000373264.4_Frame_Shift_Del_p.E251fs			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	251					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CATCACCCCTGAGGTACGGGG	0.647													2	4	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)tccfs	p.S65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.520													7	462	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													12	344	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													10	766	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													10	330	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													10	311	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		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)		CTGGGCCCTCCGGGGGGGTGAA	0.589													7	108	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													9	715	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													30	1129	---	---	---	---					
DGKZ	8525	broad.mit.edu	37	11	46388875	46388876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:46388875_46388876insC	ENST00000454345.1	+	3	888_889	c.763_764insC	c.(763-765)cccfs	p.P255fs	DGKZ_ENST00000421244.2_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000532868.2_Frame_Shift_Ins_p.P71fs|DGKZ_ENST00000318201.8_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000395574.3_Frame_Shift_Ins_p.P32fs|DGKZ_ENST00000456247.2_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000527911.1_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000343674.6_Frame_Shift_Ins_p.P83fs|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	255					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCAGCACCTGGCCCCCCCTCCG	0.658													3	5	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293357	62293358	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:62293357_62293358delGA	ENST00000378024.4	-	5	8805_8806	c.8531_8532delTC	c.(8530-8532)cfs	p.L2844fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2844					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCTGTGAGATTCAGGTC	0.436													7	238	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													7	354	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													13	659	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													11	1458	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													11	1367	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													13	1049	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													9	77	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs|JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													9	245	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													17	847	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)tgtfs	p.C374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTGTCAACATCCCCCCAGTCA	0.470													7	504	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320925	46320926	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:46320925_46320926insT	ENST00000465950.1	-	1	2822_2823	c.1613_1614insA	c.(1612-1614)agafs	p.R538fs	SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.R661fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.R853fs|SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.R853fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	853					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCAATATCCTTTTTTGGGGA	0.450													10	547	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													11	159	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													13	430	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													13	673	---	---	---	---					
AVIL	10677	broad.mit.edu	37	12	58204895	58204896	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:58204895_58204896insC	ENST00000537081.1	-	4	331_332	c.332_333insG	c.(331-333)ggtfs	p.G111fs	AVIL_ENST00000257861.3_Frame_Shift_Ins_p.G118fs			O75366	AVIL_HUMAN	advillin	118	Core (By similarity).|Polyphosphoinositide binding (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGAGGCGACACCCCCCTGCTT	0.515													7	600	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67699691	67699692	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:67699691_67699692insG	ENST00000545606.1	+	10	2680_2681	c.2243_2244insG	c.(2242-2244)cggfs	p.R748fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	748					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCCTTATTGCAGGGGGGAGCTC	0.426													8	831	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								22	917	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81741386	81741387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:81741386_81741387insG	ENST00000550584.2	-	17	2452_2453	c.2157_2158insC	c.(2155-2160)ccgtggfs	p.W720fs	PPFIA2_ENST00000550359.2_Frame_Shift_Ins_p.W567fs|PPFIA2_ENST00000548586.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000443686.3_Frame_Shift_Ins_p.W621fs|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Frame_Shift_Ins_p.W646fs|PPFIA2_ENST00000549325.1_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000541570.2_Frame_Shift_Ins_p.W287fs|PPFIA2_ENST00000552948.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000549396.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000333447.7_Frame_Shift_Ins_p.W702fs	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	646										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						GAGTGTCCACTGGGGGGAGATG	0.550													12	403	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													19	299	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	411	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													24	756	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													24	442	---	---	---	---					
OR4Q3	441669	broad.mit.edu	37	14	20215682	20215683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:20215682_20215683insT	ENST00000331723.1	+	1	96_97	c.96_97insT	c.(94-99)ttttttfs	p.FF32fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	32					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)		TACTATTTTTGTTTTTTTACAT	0.381													7	655	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505													10	1077	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													14	244	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													11	315	---	---	---	---					
GALC	2581	broad.mit.edu	37	14	88406275	88406276	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:88406275_88406276insT	ENST00000261304.2	-	16	1990_1991	c.1884_1885insA	c.(1882-1887)aaggtafs	p.V629fs	GALC_ENST00000544807.2_Frame_Shift_Ins_p.V573fs|GALC_ENST00000393569.2_Frame_Shift_Ins_p.V603fs|GALC_ENST00000393568.4_Frame_Shift_Ins_p.V606fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	629					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTATACCATTTTTTTGCTG	0.307													13	972	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													8	831	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	624	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													8	360	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													10	649	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													11	299	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													11	399	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				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)		ACCAGGAGGTTGGGGGGGTGGG	0.574													9	107	---	---	---	---					
MVP	9961	broad.mit.edu	37	16	29855917	29855918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:29855917_29855918insG	ENST00000357402.5	+	11	1876_1877	c.1738_1739insG	c.(1738-1740)gggfs	p.G580fs	MVP_ENST00000395353.1_Frame_Shift_Ins_p.G580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	580					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						ATCCCGGGTGCGGGGGGCCGTG	0.569													7	157	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													10	529	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													12	410	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													37	793	---	---	---	---					
SNTB2	6645	broad.mit.edu	37	16	69279579	69279580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:69279579_69279580insC	ENST00000336278.4	+	2	693_694	c.655_656insC	c.(655-657)cccfs	p.P219fs	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	219	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGAAGGTGCAGCCCCCCAGTCA	0.450													7	559	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													7	313	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													12	106	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					8	897	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1555-1560)tgggggfs	p.WG519fs	WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	519					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599													7	27	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:21731033_21731034insC	ENST00000584755.1	+	2	732_733	c.335_336insC	c.(334-336)accfs	p.T112fs	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.540													7	99	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													11	1115	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													7	426	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248730	44248731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:44248730_44248731insC	ENST00000262419.6	-	2	1249_1250	c.779_780insG	c.(778-780)ggtfs	p.G260fs	KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.G260fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	260						MLL1 complex	protein binding										CCAATTTGACACCCCCCAAGTT	0.470													8	254	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													14	227	---	---	---	---					
ANKRD12	23253	broad.mit.edu	37	18	9204503	9204504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr18:9204503_9204504insG	ENST00000262126.3	+	4	505_506	c.265_266insG	c.(265-267)gggfs	p.G89fs	ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	89						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAGTGAAAATTGGGGGGAGAGA	0.386													8	238	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													7	274	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9091573	9091574	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:9091573_9091574insC	ENST00000397910.4	-	1	444_445	c.241_242insG	c.(241-243)gatfs	p.D81fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	81	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGACATCACCCCCAAAGAC	0.530													7	748	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													8	283	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													21	994	---	---	---	---					
KIR3DL1	3811	broad.mit.edu	37	19	55331416	55331417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr19:55331416_55331417insC	ENST00000391728.4	+	4	637_638	c.604_605insC	c.(604-606)cccfs	p.P202fs	KIR3DL1_ENST00000402254.2_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Ins_p.P107fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Ins_p.P202fs	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGTTACTCACACCCCCTATCAG	0.520													8	1896	---	---	---	---					
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-783)cccfs	p.P261fs	PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579													8	246	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16360400	16360401	+	Frame_Shift_Ins	INS	-	-	T	rs76323917		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:16360400_16360401insT	ENST00000354981.2	-	19	2403_2404	c.2246_2247insA	c.(2245-2247)aagfs	p.K749fs	KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.K749fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.K749fs|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	749	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K749fs*3(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCTCTAGTCTCTTTTTTTCCAG	0.500													8	674	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													13	370	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													7	338	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													7	280	---	---	---	---					
SLC5A3	6526	broad.mit.edu	37	21	35467568	35467569	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:35467568_35467569insT	ENST00000381151.3	+	2	583_584	c.71_72insT	c.(70-72)gttfs	p.V24fs	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	24		Implicated in sodium coupling (By similarity).				integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATGTGCATTGGTTTTTTTGCCA	0.465													7	434	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													15	1126	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													8	367	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													8	221	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													23	683	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													11	761	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													13	787	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65417585	65417586	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:65417585_65417586insC	ENST00000519389.1	+	10	1903_1904	c.1724_1725insC	c.(1723-1725)gccfs	p.A575fs	HEPH_ENST00000336279.5_Frame_Shift_Ins_p.A254fs|HEPH_ENST00000441993.2_Frame_Shift_Ins_p.A524fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.A524fs|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Frame_Shift_Ins_p.A521fs			Q9BQS7	HEPH_HUMAN	hephaestin	521	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CGCTGGACAGTCCCCCCTCATG	0.500													7	348	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65486286	65486287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:65486286_65486287insC	ENST00000519389.1	+	21	3590_3591	c.3411_3412insC	c.(3409-3414)gtccccfs	p.VP1137fs	HEPH_ENST00000336279.5_Frame_Shift_Ins_p.VP816fs|HEPH_ENST00000441993.2_Splice_Site_p.VP1085_splice|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.VP1086fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.VP894fs|HEPH_ENST00000343002.2_Frame_Shift_Ins_p.VP1083fs			Q9BQS7	HEPH_HUMAN	hephaestin	1083					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTCAGCAGTGCCCCCCAGAGA	0.436													9	513	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)ccagccfs	p.A631fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475													8	707	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													21	1156	---	---	---	---					
POF1B	79983	broad.mit.edu	37	X	84561281	84561284	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:84561281_84561284delAGAG	ENST00000262753.4	-	12	1365_1368	c.1220_1223delCTCT	c.(1219-1224)ttfs	p.SL407fs	POF1B_ENST00000373145.3_Frame_Shift_Del_p.SL407fs	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	407							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTATGTCGAAGAGAGAGATTGTT	0.343													96	485	---	---	---	---					
TCEAL4	79921	broad.mit.edu	37	X	102842130	102842131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:102842130_102842131insG	ENST00000472745.1	+	3	1079_1080	c.527_528insG	c.(526-528)tggfs	p.W176fs	TCEAL4_ENST00000468024.1_Frame_Shift_Ins_p.W176fs|TCEAL4_ENST00000494801.1_Frame_Shift_Ins_p.W176fs|TCEAL4_ENST00000472484.1_Frame_Shift_Ins_p.W176fs|TCEAL4_ENST00000372629.4_Frame_Shift_Ins_p.W319fs|TCEAL4_ENST00000415568.2_Frame_Shift_Ins_p.W176fs			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						AAACAGAAATTGGGGGCGTTTT	0.460													7	1079	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				13	1654	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135429987	135429987	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:135429987delT	ENST00000394143.1	+	6	4413	c.4122delT	c.(4120-4122)acfs	p.T1374fs	GPR112_ENST00000412101.1_Frame_Shift_Del_p.T1169fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.T1169fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.T1374fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.T1311fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1374					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATCACCACTTTTTTGTGTC	0.458													10	2338	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)gggfs	p.G2570fs	GPR112_ENST00000412101.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.G2570fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.G2368fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.530													16	3009	---	---	---	---					
FGF13	2258	broad.mit.edu	37	X	137939822	137939823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:137939822_137939823insG	ENST00000370603.3	-	2	67_68	c.68_69insC	c.(67-69)cggfs	p.R23fs	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_5'UTR			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGTGCCAGGGGGGGCGTC	0.431													8	181	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													2	4	---	---	---	---					
TKT	7086	broad.mit.edu	37	3	53264635	53264635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr3:53264635delT	ENST00000462138.1	-	8	1033	c.945delA	c.(943-945)atfs	p.I315fs	TKT_ENST00000296289.6_Frame_Shift_Del_p.I268fs|TKT_ENST00000423525.2_Frame_Shift_Del_p.I315fs|TKT_ENST00000423516.1_Frame_Shift_Del_p.I323fs|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	315					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TGCGGGTGGCTATCTGTGAGG	0.607													27	66	---	---	---	---					
MTTP	4547	broad.mit.edu	37	4	100540140	100540140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr4:100540140delT	ENST00000457717.1	+	17	2483	c.2227delT	c.(2227-2229)tafs	p.L743fs	MTTP_ENST00000265517.5_Frame_Shift_Del_p.L743fs|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L770fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	743					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGAACTTCAGTTACAATCTGG	0.363													10	55	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293357	62293358	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr11:62293357_62293358delGA	ENST00000378024.4	-	5	8805_8806	c.8531_8532delTC	c.(8530-8532)cfs	p.L2844fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2844					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCTGTGAGATTCAGGTC	0.436													12	307	---	---	---	---					
CEP170B	283638	broad.mit.edu	37	14	105352885	105352890	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-	rs60001925		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr14:105352885_105352890delGCAGGA	ENST00000453495.1	+	12	2540_2545	c.2312_2317delGCAGGA	c.(2311-2319)cgc>c	p.RRS771del	CEP170B_ENST00000556508.1_In_Frame_Del_p.RRS700del|CEP170B_ENST00000418279.1_In_Frame_Del_p.RRS700del|CEP170B_ENST00000414716.3_In_Frame_Del_p.RRS770del					centrosomal protein 170B																		GACAGCAGACGCAGGAGCCCCCAGGA	0.694													9	11	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGTGAGACCGAAGAAGACTTGC	0.581													5	4	---	---	---	---					
TEKT4P2	100132288	broad.mit.edu	37	21	9926928	9926928	+	RNA	DEL	C	C	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chr21:9926928delC	ENST00000416067.1	-	0	129					NR_037872.1|NR_038327.1																						ACAGGGAGGTCGGCCGGGGTC	0.632													4	7	---	---	---	---					
POF1B	79983	broad.mit.edu	37	X	84561281	84561284	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bae1345a-b4bf-41a9-aa39-7c1b0844d4a3	g.chrX:84561281_84561284delAGAG	ENST00000262753.4	-	12	1365_1368	c.1220_1223delCTCT	c.(1219-1224)ttfs	p.SL407fs	POF1B_ENST00000373145.3_Frame_Shift_Del_p.SL407fs	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	407							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTATGTCGAAGAGAGAGATTGTT	0.343													11	42	---	---	---	---					
ARHGAP29	9411	broad.mit.edu	37	1	94668130	94668131	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:94668130_94668131insT	ENST00000260526.6	-	11	1294_1295	c.1112_1113insA	c.(1111-1113)acgfs	p.T371fs	ARHGAP29_ENST00000370217.3_Frame_Shift_Ins_p.T371fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	371					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAACCTTCGCTTTTTTTCTAG	0.396													10	330	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		GAGGGGCTGATCCCCCCCTACG	0.559													7	229	---	---	---	---					
SCYL3	57147	broad.mit.edu	37	1	169823691	169823692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:169823691_169823692insC	ENST00000367772.4	-	13	2085_2086	c.1888_1889insG	c.(1888-1890)tgafs	p.*630fs	SCYL3_ENST00000367771.5_Frame_Shift_Ins_p.*576fs|SCYL3_ENST00000367770.1_Frame_Shift_Ins_p.*630fs	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	630	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTGCGTCATCCCCCCTTTGT	0.465													11	534	---	---	---	---					
DNM3	26052	broad.mit.edu	37	1	172017884	172017885	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:172017884_172017885insA	ENST00000358155.4	+	10	1505_1506	c.1329_1330insA	c.(1327-1332)acaaaafs	p.TK443fs	DNM3_ENST00000355305.5_Frame_Shift_Ins_p.TK443fs|DNM3_ENST00000367733.2_Frame_Shift_Ins_p.TK443fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.TK443fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.TK443fs	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	443					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.T443T(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGAAGTGTACCAAAAAAGTAAG	0.376													8	2451	---	---	---	---					
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)cccfs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505													7	463	---	---	---	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcfs	p.A170fs	ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													7	191	---	---	---	---					
RBM34	23029	broad.mit.edu	37	1	235323946	235323947	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:235323946_235323947insT	ENST00000408888.3	-	3	474_475	c.244_245insA	c.(244-246)gaafs	p.E82fs	RBM34_ENST00000366606.3_Frame_Shift_Ins_p.E77fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	82						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTCCGTTTCGTTTTTTTGATG	0.371													8	534	---	---	---	---					
TKT	7086	broad.mit.edu	37	3	53264635	53264635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:53264635delT	ENST00000462138.1	-	8	1033	c.945delA	c.(943-945)atfs	p.I315fs	TKT_ENST00000296289.6_Frame_Shift_Del_p.I268fs|TKT_ENST00000423525.2_Frame_Shift_Del_p.I315fs|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Frame_Shift_Del_p.I323fs			P29401	TKT_HUMAN	transketolase	315					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TGCGGGTGGCTATCTGTGAGG	0.607													9	28	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:15995680delT	ENST00000505450.1	-	15	2282	c.1670delA	c.(1669-1671)atfs	p.N557fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													7	377	---	---	---	---					
PPARGC1A	10891	broad.mit.edu	37	4	23833202	23833203	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:23833202_23833203insG	ENST00000264867.2	-	3	525_526	c.406_407insC	c.(406-408)ggafs	p.G136fs	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	136					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTCTGCCTCCTGGGGTGGAGGG	0.540													7	993	---	---	---	---					
YTHDC1	91746	broad.mit.edu	37	4	69188585	69188586	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:69188585_69188586insG	ENST00000344157.4	-	11	1817_1818	c.1482_1483insC	c.(1480-1485)ccatgafs	p.*495fs	YTHDC1_ENST00000355665.3_Frame_Shift_Ins_p.*477fs|YTHDC1_ENST00000579690.1_Frame_Shift_Ins_p.*495fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	495										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATACTTTCATCGGGGGGAAACA	0.426													8	263	---	---	---	---					
MTTP	4547	broad.mit.edu	37	4	100540140	100540140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:100540140delT	ENST00000457717.1	+	17	2483	c.2227delT	c.(2227-2229)tafs	p.L743fs	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Frame_Shift_Del_p.L743fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L770fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	743					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGAACTTCAGTTACAATCTGG	0.363													46	127	---	---	---	---					
TTC39CP1	100288825	broad.mit.edu	37	4	117115862	117115863	+	RNA	INS	-	-	T	rs142004885	by1000genomes	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:117115862_117115863insT	ENST00000509983.1	-	0	333																											TCTCAGACGTATTGCAAGTTCC	0.376													14	37	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (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)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				8	557	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111519753	111519754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:111519753_111519754insT	ENST00000261486.5	-	18	1857_1858	c.1581_1582insA	c.(1579-1584)caccgafs	p.HR527fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	527						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGGGTCGGCTTGGTTTTTTT	0.431													7	542	---	---	---	---					
SGCD	6444	broad.mit.edu	37	5	155935709	155935710	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr5:155935709_155935710delAC	ENST00000435422.3	+	3	775_776	c.288_289delAC	c.(286-291)cgcafs	p.RP96fs	SGCD_ENST00000337851.4_Frame_Shift_Del_p.RP97fs|SGCD_ENST00000517913.1_Frame_Shift_Del_p.RP97fs|SGCD_ENST00000447401.1_Frame_Shift_Del_p.RP97fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	96			R -> Q (in dbSNP:rs1801194).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAGTCCCGACCAGTAAGTTT	0.436													24	122	---	---	---	---					
HLA-DMA	3108	broad.mit.edu	37	6	32917122	32917123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:32917122_32917123insC	ENST00000374843.4	-	4	791_792	c.706_707insG	c.(706-708)cttfs	p.L236fs	HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Frame_Shift_Ins_p.L141fs|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Frame_Shift_Ins_p.L202fs	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	236						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						CAGGCCAAAGGCCACGCCACAC	0.589													11	131	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64394097	64394097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr6:64394097delA	ENST00000262043.3	+	4	814	c.474delA	c.(472-474)acfs	p.T158fs	PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs			Q92576	PHF3_HUMAN	PHD finger protein 3	158					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTAACACAAAAAAAGCAT	0.383													7	453	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs73692143		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330																											ATTTGTCAAGgtgtgtgtgtgt	0.391													10	215	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													7	406	---	---	---	---					
RECK	8434	broad.mit.edu	37	9	36112460	36112461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:36112460_36112461insA	ENST00000377966.3	+	16	2613_2614	c.2047_2048insA	c.(2047-2049)aaafs	p.K683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416													7	86	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													9	506	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19247356	19247357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:19247356_19247357insC	ENST00000527884.1	-	11	2180_2181	c.1948_1949insG	c.(1948-1950)agafs	p.R650fs	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R650fs|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	650					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGGACTCTGCCCCCAGGGAT	0.450													7	641	---	---	---	---					
DGKZ	8525	broad.mit.edu	37	11	46388875	46388876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:46388875_46388876insC	ENST00000454345.1	+	3	888_889	c.763_764insC	c.(763-765)cccfs	p.P255fs	DGKZ_ENST00000318201.8_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000395574.3_Frame_Shift_Ins_p.P32fs|DGKZ_ENST00000456247.2_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000421244.2_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000527911.1_Frame_Shift_Ins_p.P66fs|DGKZ_ENST00000343674.6_Frame_Shift_Ins_p.P83fs|DGKZ_ENST00000532868.2_Frame_Shift_Ins_p.P71fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	255					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCAGCACCTGGCCCCCCCTCCG	0.658													3	5	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293357	62293358	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:62293357_62293358delGA	ENST00000378024.4	-	5	8805_8806	c.8531_8532delTC	c.(8530-8532)cfs	p.L2844fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2844					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCTGTGAGATTCAGGTC	0.436													7	238	---	---	---	---					
DSCAML1	57453	broad.mit.edu	37	11	117321331	117321332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:117321331_117321332insG	ENST00000321322.6	-	20	3822_3823	c.3821_3822insC	c.(3820-3822)cacfs	p.H1274fs	DSCAML1_ENST00000527706.1_Frame_Shift_Ins_p.H1004fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1214	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGCTTGGTAGGGGGGAGCCA	0.589													7	278	---	---	---	---					
GALNT6	11226	broad.mit.edu	37	12	51751177	51751178	+	Frame_Shift_Ins	INS	-	-	C	rs148799204		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:51751177_51751178insC	ENST00000543196.2	-	9	1762_1763	c.1557_1558insG	c.(1555-1560)ggagccfs	p.A520fs	GALNT6_ENST00000356317.3_Frame_Shift_Ins_p.A520fs			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	520	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGGGGCTTCCCCCCGCGGT	0.599													8	293	---	---	---	---					
AVIL	10677	broad.mit.edu	37	12	58204895	58204896	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:58204895_58204896insC	ENST00000537081.1	-	4	331_332	c.332_333insG	c.(331-333)ggtfs	p.G111fs	AVIL_ENST00000257861.3_Frame_Shift_Ins_p.G118fs			O75366	AVIL_HUMAN	advillin	118	Core (By similarity).|Polyphosphoinositide binding (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGAGGCGACACCCCCCTGCTT	0.515													7	600	---	---	---	---					
MVP	9961	broad.mit.edu	37	16	29855917	29855918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:29855917_29855918insG	ENST00000357402.5	+	11	1876_1877	c.1738_1739insG	c.(1738-1740)gggfs	p.G580fs	MVP_ENST00000395353.1_Frame_Shift_Ins_p.G580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	580					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						ATCCCGGGTGCGGGGGGCCGTG	0.569													7	157	---	---	---	---					
PFAS	5198	broad.mit.edu	37	17	8167584	8167585	+	Frame_Shift_Ins	INS	-	-	C	rs138697840	byFrequency	TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:8167584_8167585insC	ENST00000314666.6	+	16	1979_1980	c.1846_1847insC	c.(1846-1848)cccfs	p.P616fs	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Frame_Shift_Ins_p.P192fs	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	616					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGGGGATGCCCCCCCGACA	0.594													7	22	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													7	426	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9091573	9091574	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:9091573_9091574insC	ENST00000397910.4	-	1	444_445	c.241_242insG	c.(241-243)gatfs	p.D81fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	81	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGACATCACCCCCAAAGAC	0.530													7	748	---	---	---	---					
KIR3DL1	3811	broad.mit.edu	37	19	55331416	55331417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:55331416_55331417insC	ENST00000391728.4	+	4	637_638	c.604_605insC	c.(604-606)cccfs	p.P202fs	KIR3DL1_ENST00000541392.1_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Ins_p.P202fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Ins_p.P107fs	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGTTACTCACACCCCCTATCAG	0.520													8	1896	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56490817	56490818	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:56490817_56490818insA	ENST00000291971.3	+	9	3005_3006	c.2934_2935insA	c.(2932-2937)cgaaaafs	p.RK978fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.RK959fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	978						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCATGCTCCGCAAAAACCAACA	0.500													9	611	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)cccfs	p.P49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728													6	7	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114748	23114749	+	RNA	INS	-	-	T	rs58165270		TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:23114748_23114749insT	ENST00000390313.2	+	0	55																											CCATCCTCTCCTTTTTTTTTTT	0.495													4	2	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													8	449	---	---	---	---					
POF1B	79983	broad.mit.edu	37	X	84561281	84561284	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-67-3774-01A-01W-0928-08	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4063850f-e92d-4ad8-bf44-65a7b2f56894	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:84561281_84561284delAGAG	ENST00000262753.4	-	12	1365_1368	c.1220_1223delCTCT	c.(1219-1224)ttfs	p.SL407fs	POF1B_ENST00000373145.3_Frame_Shift_Del_p.SL407fs	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	407							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTATGTCGAAGAGAGAGATTGTT	0.343													96	485	---	---	---	---					
LCE1F	353137	broad.mit.edu	37	1	152749003	152749008	+	In_Frame_Del	DEL	TGGCTC	TGGCTC	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr1:152749003_152749008delTGGCTC	ENST00000334371.2	+	1	156_161	c.156_161delTGGCTC	c.(154-162)tgc>tg	p.CGS52del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	52					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCTGCTGTGGCTCCAGCTCTGGG	0.680													7	199	---	---	---	---					
TKT	7086	broad.mit.edu	37	3	53264635	53264635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr3:53264635delT	ENST00000462138.1	-	8	1033	c.945delA	c.(943-945)atfs	p.I315fs	TKT_ENST00000423525.2_Frame_Shift_Del_p.I315fs|TKT_ENST00000296289.6_Frame_Shift_Del_p.I268fs|TKT_ENST00000423516.1_Frame_Shift_Del_p.I323fs|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	315					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TGCGGGTGGCTATCTGTGAGG	0.607													27	66	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													13	51	---	---	---	---					
MTTP	4547	broad.mit.edu	37	4	100540140	100540140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr4:100540140delT	ENST00000457717.1	+	17	2483	c.2227delT	c.(2227-2229)tafs	p.L743fs	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L770fs|MTTP_ENST00000265517.5_Frame_Shift_Del_p.L743fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	743					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGAACTTCAGTTACAATCTGG	0.363													10	55	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													20	42	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)cccfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													9	101	---	---	---	---					
MPDZ	8777	broad.mit.edu	37	9	13108980	13108981	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:13108980_13108981insC	ENST00000319217.7	-	46	6267_6268	c.6020_6021insG	c.(6019-6021)accfs	p.T2007fs	MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.T1978fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.T1974fs|MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.T2021fs|MPDZ_ENST00000541093.1_Frame_Shift_Ins_p.T241fs|MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.T2007fs|MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.T1945fs|MPDZ_ENST00000538841.1_Frame_Shift_Ins_p.T866fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.T1978fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2007	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCCATGAGGGCTGCCATATCC	0.416													3	5	---	---	---	---					
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs58003635		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:94904432delG	ENST00000416438.2	+	0	184					NR_027341.1																						GGCCTTCTTTGGGGGGGGGGT	0.612													3	4	---	---	---	---					
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc	p.987_988TG>TLPPPHG	PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	987	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688													5	7	---	---	---	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594													7	163	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293357	62293358	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr11:62293357_62293358delGA	ENST00000378024.4	-	5	8805_8806	c.8531_8532delTC	c.(8530-8532)cfs	p.L2844fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2844					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCTGTGAGATTCAGGTC	0.436													12	307	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													10	29	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													16	354	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124719639	124719641	+	RNA	DEL	CCT	CCT	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr12:124719639_124719641delCCT	ENST00000540762.1	+	0	444																											accaccatcacctccatcatcac	0.488													3	3	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)cag>ca	p.QQ508del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	508	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502													10	249	---	---	---	---					
HNRNPC	3183	broad.mit.edu	37	14	21679709	21679711	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr14:21679709_21679711delATC	ENST00000430246.2	-	7	3603_3605	c.652_654delGAT	c.(652-654)del	p.D218del	HNRNPC_ENST00000555914.1_In_Frame_Del_p.D217del|HNRNPC_ENST00000553753.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000336053.6_In_Frame_Del_p.D218del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000420743.2_In_Frame_Del_p.D231del|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000320084.7_In_Frame_Del_p.D231del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000555883.1_In_Frame_Del_p.D175del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.D151del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000555309.1_In_Frame_Del_p.D230del			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	231	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTTCTGACTTATCATTCTTCATC	0.512													10	15	---	---	---	---					
MGAT2	4247	broad.mit.edu	37	14	50088320	50088321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr14:50088320_50088321insC	ENST00000305386.2	+	1	832_833	c.334_335insC	c.(334-336)ctgfs	p.L112fs	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	112					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAAGGCTGGCACCTGGGCCCCC	0.614													7	287	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													29	632	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67973970	67973971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr16:67973970_67973971insG	ENST00000264005.5	-	6	1188_1189	c.1159_1160insC	c.(1159-1161)gccfs	p.A387fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	387					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGCTGTGGCTGGCGGCCCTGC	0.629													8	294	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													8	31	---	---	---	---					
CACTIN	58509	broad.mit.edu	37	19	3613226	3613227	+	In_Frame_Ins	INS	-	-	CCTCGC			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr19:3613226_3613227insCCTCGC	ENST00000429344.2	-	9	1667_1668	c.1615_1616insGCGAGG	c.(1615-1617)ggt>GCGAGGggt	p.538_539insAR	CACTIN_ENST00000248420.5_In_Frame_Ins_p.538_539insAR|CACTIN_ENST00000221899.3_In_Frame_Ins_p.470_471insAR|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CATGAGCACCGCCTCGCCCTCG	0.748													13	58	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562	by1000genomes	TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)gaafs	p.E440fs	DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559													16	320	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	1132	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccc>cc	p.PCCAPS45del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													16	38	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114748	23114749	+	RNA	INS	-	-	T	rs58165270		TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chr22:23114748_23114749insT	ENST00000390313.2	+	0	55																											CCATCCTCTCCTTTTTTTTTTT	0.495													8	8	---	---	---	---					
POF1B	79983	broad.mit.edu	37	X	84561281	84561284	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:84561281_84561284delAGAG	ENST00000262753.4	-	12	1365_1368	c.1220_1223delCTCT	c.(1219-1224)ttfs	p.SL407fs	POF1B_ENST00000373145.3_Frame_Shift_Del_p.SL407fs	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	407							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTATGTCGAAGAGAGAGATTGTT	0.343													11	42	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146953	129146954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3774-01A-01D-1040-01	TCGA-67-3774-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8074cbbf-acd2-45b3-9aa4-119711cf9855	bed3d01a-4006-46ed-8276-775afc696240	g.chrX:129146953_129146954insG	ENST00000540052.1	+	3	249_250	c.205_206insG	c.(205-207)caafs	p.Q69fs	BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.Q69fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.Q69fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.Q69fs|BCORL1_ENST00000488135.1_3'UTR	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	69					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGAAGTGGCAGCAATGCCCGG	0.574													8	501	---	---	---	---