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
EPHX1	2052	broad.mit.edu	37	1	226030140	226030140	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:226030140G>T	ENST00000366837.4	+	7	1201	c.1005G>T	c.(1003-1005)acG>acT	p.T335T	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.T335T	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	335					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)					GGACCAATACGGAATTCCGAT	0.582000													23	51					1.77063e-15	2.72621e-15	0.108266	1	0
GLRX3	10539	broad.mit.edu	37	10	131965194	131965194	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:131965194A>G	ENST00000368644.1	+	6	685	c.663A>G	c.(661-663)gcA>gcG	p.A221A	GLRX3_ENST00000331244.5_Silent_p.A221A	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	221	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGCTAGAAGCATCTGAAGAAC	0.289000													12	27					0	0	0.093190	0	0
MKL2	57496	broad.mit.edu	37	16	14334639	14334639	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:14334639C>T	ENST00000573051.1	+	9	1252	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	MKL2_ENST00000571589.1_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000572567.1_3'UTR			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTAGATGCTCTGAGAAAAGC	0.363000													7	22					0	0	0.029380	0	0
FAIM2	23017	broad.mit.edu	37	12	50290860	50290860	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:50290860C>A	ENST00000320634.3	-	5	482	c.388G>T	c.(388-390)Gtc>Ttc	p.V130F	FAIM2_ENST00000550890.1_Missense_Mutation_p.V84F	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	130					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TAGTCCTTGACAGGGTCACTG	0.532000													24	60					9.57634e-11	1.31449e-10	0.083992	1	0
FAM105A	54491	broad.mit.edu	37	5	14601073	14601073	+	Splice_Site	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:14601073G>C	ENST00000274217.3	+	2	184		c.e2-1			NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A											large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AATTTTCATAGGAAGTGACCA	0.353000													16	24					0	0	0.028581	0	0
LARP4B	23185	broad.mit.edu	37	10	863720	863720	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:863720T>A	ENST00000316157.3	-	14	1680	c.1640A>T	c.(1639-1641)gAg>gTg	p.E547V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	547							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						AAACAAGTCCTCTGTCTTCAA	0.493000													57	174					0	0	0.048971	0	0
LRRC40	55631	broad.mit.edu	37	1	70611486	70611486	+	Silent	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:70611486A>C	ENST00000370952.3	-	15	1885	c.1806T>G	c.(1804-1806)acT>acG	p.T602T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	602										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CTCCATGTTAAGTAGGAATTC	0.358000													11	26					0	0	0.105934	0	0
OR10J1	26476	broad.mit.edu	37	1	159410229	159410229	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:159410229T>C	ENST00000423932.3	+	1	718	c.681T>C	c.(679-681)tcT>tcC	p.S227S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	227					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTTTCATTTCTTATGTTCTCA	0.453000													36	139					0	0	0.069456	0	0
AHNAK	79026	broad.mit.edu	37	11	62285076	62285076	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:62285076C>A	ENST00000378024.4	-	5	17087	c.16813G>T	c.(16813-16815)Gct>Tct	p.A5605S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5605	Gly-rich.				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)				AAGTTGAGAGCAGAGGAGACT	0.542000													37	177					6.97489e-18	1.13391e-17	0.074837	1	0
KIF11	3832	broad.mit.edu	37	10	94381209	94381209	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:94381209A>G	ENST00000260731.3	+	10	1286	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	399					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATGGAGTGTATATTTCTGAA	0.373000													24	65					0	0	0.091800	0	0
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:124211723G>A	ENST00000360013.3	+	32	4947	c.4820G>A	c.(4819-4821)aGt>aAt	p.S1607N	KALRN_ENST00000460856.1_Missense_Mutation_p.S1598N|KALRN_ENST00000240874.3_Missense_Mutation_p.S1607N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507000													20	42					0	0	0.055883	0	0
TMEM81	388730	broad.mit.edu	37	1	205053097	205053097	+	Missense_Mutation	SNP	G	G	C	rs145019132	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:205053097G>C	ENST00000367167.3	-	1	548	c.352C>G	c.(352-354)Cgg>Ggg	p.R118G		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	118	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CAGGTGAACCGGAAAGCTTCC	0.468000													24	79					0	0	0.083992	0	0
POLE	5426	broad.mit.edu	37	12	133256567	133256567	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:133256567C>A	ENST00000320574.5	-	5	439	c.396G>T	c.(394-396)gaG>gaT	p.E132D	POLE_ENST00000535270.1_Missense_Mutation_p.E105D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	132					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGGGACAGTCTCCACTTTTG	0.468000								DNA polymerases (catalytic subunits)					21	50					5.35356e-11	7.38334e-11	0.076483	1	0
INPP4B	8821	broad.mit.edu	37	4	143159166	143159166	+	Splice_Site	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:143159166T>C	ENST00000513000.1	-	13	1122		c.e13-2		INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTTTAACACTGGAAAAAAAA	0.313000													4	19					0	0	0.009096	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438093	42438093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:42438093C>T	ENST00000397272.3	-	15	1640	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E515K	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	515	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCGTGAACTCGCACCACTCT	0.572000													26	72					0	0	0.108266	0	0
ZNF232	7775	broad.mit.edu	37	17	5009405	5009405	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:5009405T>C	ENST00000250076.3	-	5	1703	c.1049A>G	c.(1048-1050)cAg>cGg	p.Q350R	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.Q341R	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	323					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATGAATTCTCTGATGCTGACC	0.453000													39	102					0	0	0.092188	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920652	51920652	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51920652C>T	ENST00000353836.5	-	2	326	c.105G>A	c.(103-105)ctG>ctA	p.L35L	SIGLEC10_ENST00000442846.3_Silent_p.L35L|SIGLEC10_ENST00000432469.2_Silent_p.L35L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.L35L|SIGLEC10_ENST00000525998.1_Silent_p.L35L|SIGLEC10_ENST00000356298.5_Silent_p.L35L|SIGLEC10_ENST00000439889.2_Silent_p.L35L|SIGLEC10_ENST00000339313.5_Silent_p.L35L|SIGLEC10_ENST00000436984.2_Silent_p.L35L	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	35	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGAGATGCACAGGCCCTCCG	0.582000													12	69					0	0	0.033300	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058158	48058158	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:48058158T>A	ENST00000316364.5	+	14	1959	c.1520T>A	c.(1519-1521)aTt>aAt	p.I507N	SEMA6D_ENST00000389428.3_Missense_Mutation_p.I507N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.I507N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.I507N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.I507N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.I507N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.I507N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.I507N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	507	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTAGCTGCATTATCCGCATC	0.438000													36	102					0	0	0.069456	0	0
STEAP4	79689	broad.mit.edu	37	7	87912286	87912286	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:87912286A>G	ENST00000380079.4	-	3	755	c.654T>C	c.(652-654)tgT>tgC	p.C218C	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Silent_p.C218C|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	218					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTCTTATAACACAATAGAAAA	0.373000													28	52					0	0	0.108266	0	0
BTAF1	9044	broad.mit.edu	37	10	93743990	93743990	+	Silent	SNP	G	G	T	rs139800193		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:93743990G>T	ENST00000265990.6	+	19	2564	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	752					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTGTGCAGCCGCGTTTACTTG	0.338000													10	37					7.48243e-07	8.74453e-07	0.058154	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140769345	140769345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140769345G>T	ENST00000519479.1	+	1	1894	c.1894G>T	c.(1894-1896)Gac>Tac	p.D632Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTAGGCGACAGGGACGC	0.697000													25	50					1.64293e-13	2.42687e-13	0.083992	1	0
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:247163244C>A	ENST00000339986.7	-	2	283	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.D46Y	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	46	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418000													10	46					3.07112e-06	3.50469e-06	0.080935	1	0
URB2	9816	broad.mit.edu	37	1	229772385	229772385	+	Silent	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:229772385A>G	ENST00000258243.2	+	4	2161	c.2025A>G	c.(2023-2025)gaA>gaG	p.E675E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	675						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTGCTTAGAACAGCTGTACC	0.433000													41	138					0	0	0.086207	0	0
OR4C6	219432	broad.mit.edu	37	11	55433265	55433265	+	Missense_Mutation	SNP	T	T	C	rs146339011		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:55433265T>C	ENST00000314259.3	+	1	652	c.623T>C	c.(622-624)aTc>aCc	p.I208T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTGTGGCCATCTTTCTTATC	0.493000													44	77					0	0	0.042209	0	0
STK11	6794	broad.mit.edu	37	19	1207079	1207079	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:1207079G>T	ENST00000326873.7	+	1	1340	c.167G>T	c.(166-168)gGg>gTg	p.G56V	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	56	Protein kinase.				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.?(3)|p.G56V(1)|p.E57fs*107(1)|p.G56fs*4(1)		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)		GACCTGCTGGGGGAAGGCTCT	0.612000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	13					7.48243e-07	8.74453e-07	0.058154	1	0
ENPP7	339221	broad.mit.edu	37	17	77709293	77709293	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:77709293G>T	ENST00000328313.5	+	3	1072	c.851G>T	c.(850-852)gGg>gTg	p.G284V		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	284					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACCAAACGGGATGCTGCTC	0.582000													17	53					3.41278e-10	4.61916e-10	0.033300	1	0
SLC38A8	146167	broad.mit.edu	37	16	84050184	84050184	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:84050184G>T	ENST00000299709.3	-	8	1101	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	368					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTCGCTGAGGTCAGGCATA	0.612000													17	51					2.48551e-13	3.65294e-13	0.033300	1	0
LAMB4	22798	broad.mit.edu	37	7	107752264	107752264	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:107752264G>T	ENST00000388781.3	-	4	403	c.320C>A	c.(319-321)tCt>tAt	p.S107Y	LAMB4_ENST00000414450.2_Missense_Mutation_p.S107Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.S107Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.S107Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	107	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCATTTTCAGATTGCCACCA	0.343000													23	71					1.10923e-09	1.46057e-09	0.076483	1	0
RTN1	6252	broad.mit.edu	37	14	60194214	60194214	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:60194214G>A	ENST00000267484.5	-	3	1523	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	396					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCAGGGGGCTGGGGATGGTTG	0.692000													8	10					0	0	0.038147	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829511	146829511	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:146829511G>T	ENST00000361727.3	+	8	1774	c.1258G>T	c.(1258-1260)Ggc>Tgc	p.G420C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	420	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGATAATTTGGGCAATGTGGA	0.478000										HNSCC(39;0.1)			13	46					7.03913e-09	8.82925e-09	0.093190	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75388072	75388072	+	Missense_Mutation	SNP	C	C	A	rs146920707	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:75388072C>A	ENST00000555647.1	-	3	460	c.173G>T	c.(172-174)cGg>cTg	p.R58L	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R58L|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R58L|RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R58L			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	58						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CAGGGCCAGCCGGATCTGCGT	0.587000													20	79					1.01871e-10	1.39176e-10	0.049695	1	0
CCDC81	60494	broad.mit.edu	37	11	86130969	86130969	+	Splice_Site	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:86130969G>T	ENST00000278487.3	+	13	1975		c.e13-1		CCDC81_ENST00000445632.2_Splice_Site|CCDC81_ENST00000354755.1_Splice_Site|CCDC81_ENST00000528728.1_Splice_Site			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81											kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TTTCTCTCCAGGCACTTGGCA	0.473000													10	41					1.58986e-06	1.82866e-06	0.069234	1	0
RAPGEFL1	51195	broad.mit.edu	37	17	38347009	38347009	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:38347009C>T	ENST00000436615.3	+	8	1202	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.H238Y|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.H293Y|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.H287Y|RAPGEFL1_ENST00000540388.1_3'UTR	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	444					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGATGTGTGCATGAGGTGGG	0.602000													29	119					0	0	0.045705	0	0
TBKBP1	9755	broad.mit.edu	37	17	45773563	45773563	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:45773563G>T	ENST00000361722.3	+	1	934	c.85G>T	c.(85-87)Gac>Tac	p.D29Y		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	29					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CAGTCCCGGAGACCCCTCGCT	0.647000													30	36					3.99451e-17	6.42211e-17	0.041601	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720462	140720462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140720462C>A	ENST00000394576.2	+	1	1924	c.1924C>A	c.(1924-1926)Ctc>Atc	p.L642I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.L642I(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCAGAGCCTCGTGGTGGC	0.701000													52	110					1.66251e-12	2.395e-12	0.048971	1	0
NOD2	64127	broad.mit.edu	37	16	50744743	50744743	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:50744743G>T	ENST00000300589.2	+	4	1026	c.921G>T	c.(919-921)acG>acT	p.T307T	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	307	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAAGAGCACGCTCCTGCAGC	0.627000													14	30					1.5842e-08	1.9701e-08	0.105934	1	0
LMNA	4000	broad.mit.edu	37	1	156084745	156084745	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:156084745C>T	ENST00000368300.4	+	1	248	c.36C>T	c.(34-36)agC>agT	p.S12S	LMNA_ENST00000368301.2_Silent_p.S12S|LMNA_ENST00000368299.3_Silent_p.S12S|LMNA_ENST00000361308.4_Silent_p.S12S|LMNA_ENST00000347559.2_Silent_p.S12S	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	12	Head.|Interaction with MLIP.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CCACCCGCAGCGGGGCGCAGG	0.736000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				15	10					0	0	0.033300	0	0
SPATA5	166378	broad.mit.edu	37	4	123949440	123949440	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:123949440G>T	ENST00000274008.3	+	11	2038	c.1969G>T	c.(1969-1971)Ggt>Tgt	p.G657C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	657					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CATTCGAATGGGTATTCAGCC	0.448000													36	104					1.57351e-24	2.79203e-24	0.064281	1	0
PI4K2B	55300	broad.mit.edu	37	4	25262192	25262192	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:25262192T>A	ENST00000264864.6	+	6	1146	c.957T>A	c.(955-957)tgT>tgA	p.C319*	PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.C223*	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	319	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AGCAGAAATGTGAAAAGGAAA	0.294000													28	54					0	0	0.041601	0	0
PDGFRA	5156	broad.mit.edu	37	4	55151611	55151611	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55151611C>A	ENST00000257290.5	+	17	2728	c.2397C>A	c.(2395-2397)acC>acA	p.T799T	FIP1L1_ENST00000507166.1_Silent_p.T559T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	799	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAGCTTCACCTATCAAGTTG	0.393000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	44					5.61819e-17	8.98293e-17	0.108266	1	0
SCN8A	6334	broad.mit.edu	37	12	52164461	52164461	+	Silent	SNP	C	C	A	rs113227803		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52164461C>A	ENST00000354534.5	+	19	3817	c.3639C>A	c.(3637-3639)ggC>ggA	p.G1213G	SCN8A_ENST00000545061.1_Silent_p.G1213G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1213					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGAGCAGTGGCGCCCTGGTGA	0.562000													24	26					2.41591e-17	3.90572e-17	0.099896	1	0
IGFBP5	3488	broad.mit.edu	37	2	217541586	217541586	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:217541586C>T	ENST00000233813.4	-	4	1456	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	236	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACGTTTGCGGCCACGGGA	0.627000													27	104					0	0	0.059317	0	0
AXL	558	broad.mit.edu	37	19	41765541	41765541	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:41765541C>A	ENST00000301178.4	+	20	2607	c.2417C>A	c.(2416-2418)aCa>aAa	p.T806K	AXL_ENST00000359092.3_Missense_Mutation_p.T797K|AXL_ENST00000593513.1_Missense_Mutation_p.T538K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	806	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTGGAGAACACACTGAAGGCC	0.552000													20	59					3.51602e-12	4.9668e-12	0.049695	1	0
GEMIN8	54960	broad.mit.edu	37	X	14038355	14038355	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:14038355C>T	ENST00000380523.4	-	4	632	c.314G>A	c.(313-315)aGg>aAg	p.R105K	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.R105K	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	105					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TGCCTGGATCCTACTGCTGTA	0.483000													57	102					0	0	0.048971	0	0
C11orf82	220042	broad.mit.edu	37	11	82645284	82645284	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:82645284T>G	ENST00000533655.1	+	6	3116	c.2904T>G	c.(2902-2904)tgT>tgG	p.C968W	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.C968W|C11orf82_ENST00000329143.3_Missense_Mutation_p.C667W	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	968					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTGATTCTTGTTCAGAAGTCA	0.403000													25	65					0	0	0.091800	0	0
TAF1L	138474	broad.mit.edu	37	9	32631110	32631110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:32631110G>A	ENST00000242310.4	-	1	4557	c.4468C>T	c.(4468-4470)Caa>Taa	p.Q1490*		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1490					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCATGGATTGAGAGATCTGA	0.433000													36	97					0	0	0.064281	0	0
ITGB3	3690	broad.mit.edu	37	17	45361973	45361973	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:45361973C>A	ENST00000560629.1	+	4	491	c.491C>A	c.(490-492)gCg>gAg	p.A164E	ITGB3_ENST00000571680.1_Silent_p.R176R|ITGB3_ENST00000559488.1_Silent_p.R176R|ITGB3_ENST00000435993.2_Silent_p.R129R			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CAGTAACCTGCGGATTGGCTT	0.537000													44	98					5.44703e-19	9.05763e-19	0.111260	1	0
COL25A1	84570	broad.mit.edu	37	4	109745365	109745365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:109745365C>A	ENST00000399132.1	-	35	2340	c.1810G>T	c.(1810-1812)Ggt>Tgt	p.G604C	COL25A1_ENST00000399127.1_Missense_Mutation_p.G607C|COL25A1_ENST00000399126.1_Missense_Mutation_p.G604C	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	604	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCTTCTCACCCCGTGGACCA	0.413000													17	59					5.3912e-06	6.10444e-06	0.038395	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318531	79318531	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:79318531G>T	ENST00000428286.1	-	9	8121	c.6921C>A	c.(6919-6921)ctC>ctA	p.L2307L	PRUNE2_ENST00000376718.3_Silent_p.L2666L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2666					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACCCAAGCCGAGTTCAGAGA	0.552000													15	37					1.15088e-07	1.37821e-07	0.028581	1	0
FGD6	55785	broad.mit.edu	37	12	95603227	95603227	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:95603227C>A	ENST00000343958.4	-	2	2056	c.1833G>T	c.(1831-1833)gtG>gtT	p.V611V	FGD6_ENST00000549499.1_Silent_p.V611V|FGD6_ENST00000546711.1_Silent_p.V611V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	611					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGCACTTTTCCACATCCATAG	0.418000													62	148					5.98616e-33	1.08873e-32	0.048971	1	0
INPPL1	3636	broad.mit.edu	37	11	71948755	71948755	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:71948755G>T	ENST00000298229.2	+	26	3671	c.3467G>T	c.(3466-3468)cGg>cTg	p.R1156L	INPPL1_ENST00000541756.1_Missense_Mutation_p.R914L|INPPL1_ENST00000538751.1_Missense_Mutation_p.R914L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCCCCCCGGGGACTGCCC	0.697000													10	20					6.42651e-13	9.39756e-13	0.080935	1	0
POLE	5426	broad.mit.edu	37	12	133209344	133209344	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:133209344C>A	ENST00000320574.5	-	44	6085	c.6042G>T	c.(6040-6042)ggG>ggT	p.G2014G	POLE_ENST00000535270.1_Silent_p.G1987G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2014					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCGCCTCAGCCCGTCCTTCA	0.672000								DNA polymerases (catalytic subunits)					19	33					1.33834e-09	1.74644e-09	0.043863	1	0
STK11	6794	broad.mit.edu	37	19	1207144	1207144	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:1207144A>G	ENST00000326873.7	+	1	1405	c.232A>G	c.(232-234)Aag>Gag	p.K78E	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	78	Protein kinase.				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.?(3)|p.K78E(1)		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)		GAGGGCCGTCAAGATCCTCAA	0.617000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	8					0	0	0.029380	0	0
FAM109A	144717	broad.mit.edu	37	12	111801043	111801043	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:111801043C>A	ENST00000450786.2	-	2	292	c.131G>T	c.(130-132)tGg>tTg	p.W44L	FAM109A_ENST00000548163.1_Silent_p.L63L|FAM109A_ENST00000547838.2_Silent_p.L63L|FAM109A_ENST00000361483.3_Silent_p.L76L|FAM109A_ENST00000392658.5_Silent_p.L63L			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	0	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						TGCAGCCCTCCAGGATGATGA	0.692000													6	20					8.12818e-05	8.82575e-05	0.029380	1	0
PTPRO	5800	broad.mit.edu	37	12	15637142	15637142	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:15637142G>C	ENST00000281171.4	+	2	640	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	PTPRO_ENST00000348962.2_Missense_Mutation_p.V104L|PTPRO_ENST00000543886.1_Missense_Mutation_p.V104L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	104	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAATGGAAATGTGGTGACCAA	0.398000													13	38					0	0	0.020292	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522526	96522526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:96522526C>T	ENST00000371321.3	+	1	146	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	22					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AATCTGGAGACAGAGCTCTGG	0.458000													56	121					0	0	0.048971	0	0
LRP1B	53353	broad.mit.edu	37	2	141135766	141135766	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:141135766C>T	ENST00000389484.3	-	68	11592	c.10621G>A	c.(10621-10623)Gca>Aca	p.A3541T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3541	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCTGCACAGTCAAAA	0.403000										TSP Lung(27;0.18)			21	43					0	0	0.055883	0	0
SCN8A	6334	broad.mit.edu	37	12	52180593	52180593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52180593C>A	ENST00000354534.5	+	22	4388	c.4210C>A	c.(4210-4212)Ctg>Atg	p.L1404M	SCN8A_ENST00000545061.1_Missense_Mutation_p.L1363M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1404					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGCAGGATACCTGGCCCTTCT	0.398000													5	21					0.00116845	0.00122308	0.021553	1	0
GABRA6	2559	broad.mit.edu	37	5	161128508	161128508	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:161128508C>A	ENST00000523217.1	+	9	1303	c.1061C>A	c.(1060-1062)cCt>cAt	p.P354H	GABRA6_ENST00000274545.5_Missense_Mutation_p.P364H	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	364					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACAGCATCCTGACTCCAAA	0.358000										TCGA Ovarian(5;0.080)			30	93					2.81731e-10	3.83102e-10	0.045705	1	0
LDB3	11155	broad.mit.edu	37	10	88477783	88477783	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:88477783G>C	ENST00000429277.2	+	11	1899	c.1754G>C	c.(1753-1755)tGc>tCc	p.C585S	LDB3_ENST00000458213.2_Missense_Mutation_p.C470S|LDB3_ENST00000352360.5_Missense_Mutation_p.C323S|LDB3_ENST00000361373.4_Missense_Mutation_p.C580S|LDB3_ENST00000263066.6_Missense_Mutation_p.C470S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	580	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGTGCCTACTGCAAGACTTCC	0.547000													26	64					0	0	0.091800	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400757	47400757	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:47400757G>T	ENST00000310638.4	-	6	736	c.705C>A	c.(703-705)gcC>gcA	p.A235A	CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000371904.4_Silent_p.A235A|CYP4A11_ENST00000371905.1_Silent_p.A235A	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	235					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCTGGTGAAAGGCATTCCTCA	0.532000													26	87					4.72057e-08	5.74764e-08	0.091800	1	0
PARP10	84875	broad.mit.edu	37	8	145058713	145058713	+	Splice_Site	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:145058713C>T	ENST00000313028.7	-	5	1551	c.1458_splice	c.e5+1	p.R486_splice	PARP10_ENST00000524918.1_Splice_Site_p.R486_splice|PARP10_ENST00000525773.1_Splice_Site_p.R498_splice	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	486						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCACTCACCCGAAAGCCAGT	0.582000													25	38					0	0	0.076483	0	0
ANAPC1	64682	broad.mit.edu	37	2	112540062	112540062	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:112540062C>A	ENST00000341068.3	-	43	5858	c.5086G>T	c.(5086-5088)Gtt>Ttt	p.V1696F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1696					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACATATAAAACCCCATCCTTG	0.423000													6	37					0.00307968	0.00315559	0.038147	1	0
FUT10	84750	broad.mit.edu	37	8	33310750	33310750	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:33310750T>G	ENST00000327671.5	-	3	991	c.360A>C	c.(358-360)aaA>aaC	p.K120N	FUT10_ENST00000518672.1_Missense_Mutation_p.K92N|FUT10_ENST00000335589.3_Missense_Mutation_p.S46R|FUT10_ENST00000524021.1_Missense_Mutation_p.K92N|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	120					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.K120N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGAATGCTTTGGTCATGT	0.507000													19	47					0	0	0.083992	0	0
DNASE2B	58511	broad.mit.edu	37	1	84867755	84867755	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:84867755C>A	ENST00000370665.3	+	2	330	c.297C>A	c.(295-297)gcC>gcA	p.A99A		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	99					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AAGCATATGCCTCTAAGGTAT	0.373000													12	26					0.0135373	0.0136783	0.093190	1	0
SSFA2	6744	broad.mit.edu	37	2	182780424	182780424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:182780424C>T	ENST00000431877.2	+	11	2236	c.2057C>T	c.(2056-2058)tCt>tTt	p.S686F	SSFA2_ENST00000409136.1_Missense_Mutation_p.S195F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S686F|SSFA2_ENST00000428267.2_Missense_Mutation_p.S533F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S686F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	686						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGCCTCCCTCTTCCATGGAC	0.403000													18	38					0	0	0.033300	0	0
RYR2	6262	broad.mit.edu	37	1	237802491	237802491	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:237802491A>T	ENST00000366574.2	+	46	7422	c.7105A>T	c.(7105-7107)Agt>Tgt	p.S2369C	RYR2_ENST00000360064.6_Missense_Mutation_p.S2367C|RYR2_ENST00000542537.1_Missense_Mutation_p.S2353C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2369	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGCGGATCCAGTAAAACACT	0.423000													8	24					0	0	0.047766	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137465	40137465	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:40137465G>T	ENST00000278198.2	-	2	2341	c.378C>A	c.(376-378)ctC>ctA	p.L126L	LRRC4C_ENST00000530763.1_Silent_p.L126L|LRRC4C_ENST00000528697.1_Silent_p.L126L|LRRC4C_ENST00000527150.1_Silent_p.L126L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	126					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGAGTGTTGAGGTTCGCCA	0.443000													23	33					7.41877e-09	9.26551e-09	0.062417	1	0
FAT4	79633	broad.mit.edu	37	4	126411059	126411059	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:126411059G>T	ENST00000394329.3	+	17	13095	c.13082G>T	c.(13081-13083)gGt>gTt	p.G4361V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2602V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4361	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCCCAGCAGGTTTTGATGGC	0.418000													56	111					2.43277e-16	3.84748e-16	0.048971	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789936	133789936	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:133789936G>T	ENST00000321016.8	-	18	3914	c.3684C>A	c.(3682-3684)ctC>ctA	p.L1228L	IGSF9B_ENST00000533871.2_Silent_p.L1228L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1228	Pro-rich.					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)		CCTGCTGCAGGAGGCCCGGGC	0.687000													19	41					3.01185e-09	3.87809e-09	0.091800	1	0
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:105361169A>C	ENST00000453495.1	+	19	4875	c.4647A>C	c.(4645-4647)tcA>tcC	p.S1549S	CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S					centrosomal protein 170B									p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711000													5	14					0	0	0.058154	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155207	55155207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55155207G>T	ENST00000257290.5	+	21	3137	c.2806G>T	c.(2806-2808)Gag>Tag	p.E936*	FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.E696*	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	936	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTGGAACAGTGAGCCGGAGAA	0.537000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			13	35					1.49906e-05	1.67779e-05	0.020292	1	0
KLHL30	377007	broad.mit.edu	37	2	239049536	239049536	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:239049536C>G	ENST00000409223.1	+	2	248	c.141C>G	c.(139-141)caC>caG	p.H47Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.H29Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	47	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCCATGCCACCGCGGCCTCC	0.692000													26	51					0	0	0.083992	0	0
A2ML1	144568	broad.mit.edu	37	12	9001432	9001432	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:9001432C>A	ENST00000299698.7	+	16	2130	c.1950C>A	c.(1948-1950)ccC>ccA	p.P650P	A2ML1_ENST00000539547.1_Silent_p.P159P	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	494						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCCAATGCCCCAAGGGCATT	0.527000													70	147					4.79706e-38	8.8351e-38	0.048971	1	0
CLEC4D	338339	broad.mit.edu	37	12	8673750	8673750	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:8673750T>A	ENST00000299665.2	+	6	724	c.531T>A	c.(529-531)tcT>tcA	p.S177S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	177	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CCGACAACTCTCAGGGAGAAA	0.343000													14	46					0	0	0.024245	0	0
PI4K2B	55300	broad.mit.edu	37	4	25262206	25262206	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:25262206A>C	ENST00000264864.6	+	6	1160	c.971A>C	c.(970-972)gAc>gCc	p.D324A	PI4K2B_ENST00000512921.1_Missense_Mutation_p.D228A	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	324	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AAGGAAATTGACCATAAGGTA	0.289000													20	44					0	0	0.062417	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511505	75511505	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:75511505C>T	ENST00000318622.4	+	3	743	c.114C>T	c.(112-114)ccC>ccT	p.P38P	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.P38P|RHBDD2_ENST00000006777.6_Silent_p.P179P	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	179						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GGCTCATTCCCCAGACCTCTT	0.592000													7	32					0	0	0.038147	0	0
OR6K6	128371	broad.mit.edu	37	1	158725228	158725228	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158725228A>T	ENST00000368144.2	+	1	719	c.623A>T	c.(622-624)gAt>gTt	p.D208V		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATATTCTGTGATTTCACACCT	0.498000													16	81					0	0	0.024245	0	0
TEX15	56154	broad.mit.edu	37	8	30705213	30705213	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:30705213A>T	ENST00000256246.2	-	1	1395	c.1321T>A	c.(1321-1323)Tat>Aat	p.Y441N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	441										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTTCTTTATAGTCTCTCTGA	0.338000													65	140					0	0	0.048971	0	0
BAI3	577	broad.mit.edu	37	6	70070841	70070841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:70070841G>T	ENST00000370598.1	+	29	4497	c.3676G>T	c.(3676-3678)Gaa>Taa	p.E1226*	BAI3_ENST00000238918.8_Nonsense_Mutation_p.E432*|BAI3_ENST00000546190.1_Nonsense_Mutation_p.E190*	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1226					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGATGATGAAGAAGAAAAGGG	0.423000													16	40					4.7546e-09	6.04188e-09	0.028581	1	0
MRGPRD	116512	broad.mit.edu	37	11	68747617	68747617	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:68747617C>T	ENST00000309106.3	-	1	838	c.839G>A	c.(838-840)gGc>gAc	p.G280D		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	280						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTCCGGCTGCCCACCAGGAA	0.667000													19	44					0	0	0.043863	0	0
IPO5	3843	broad.mit.edu	37	13	98641395	98641395	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:98641395G>A	ENST00000261574.5	+	7	678	c.498G>A	c.(496-498)cgG>cgA	p.R166R	IPO5_ENST00000490680.1_Silent_p.R148R|IPO5_ENST00000539640.1_Intron	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	148					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGGACTGCGGGAAGCTGCCC	0.378000													17	27					0	0	0.028581	0	0
SND1	27044	broad.mit.edu	37	7	127343309	127343309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:127343309C>T	ENST00000354725.3	+	7	966	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	258	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCGACTGCTTCAGAGAGATGT	0.493000													22	47					0	0	0.076483	0	0
LILRP2	79166	broad.mit.edu	37	19	55221690	55221690	+	RNA	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:55221690G>T	ENST00000413439.1	+	0	1415																											GGCCCTGCTGGGGGAGCCCAG	0.667000													6	16					3.59834e-05	3.98143e-05	0.021553	1	0
COL19A1	1310	broad.mit.edu	37	6	70831782	70831782	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:70831782G>T	ENST00000322773.4	+	17	1391	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G52V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	430					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTCCTGGAATACAAGGA	0.269000													19	53					3.8784e-16	6.03538e-16	0.062417	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51920651	51920651	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51920651A>T	ENST00000353836.5	-	2	327	c.106T>A	c.(106-108)Tgc>Agc	p.C36S	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.C36S|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.C36S|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.C36S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.C36S|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.C36S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.C36S|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.C36S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.C36S	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	36	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACAGAGATGCACAGGCCCTCC	0.577000													12	68					0	0	0.033300	0	0
REV1	51455	broad.mit.edu	37	2	100021122	100021122	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:100021122C>T	ENST00000258428.3	-	18	3058	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	REV1_ENST00000393445.3_Missense_Mutation_p.E943K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	944					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAAGTGCTTCTAAAACAGAC	0.438000								Direct reversal of damage					24	50					0	0	0.076483	0	0
ZNFX1	57169	broad.mit.edu	37	20	47888276	47888276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:47888276C>A	ENST00000396105.1	-	3	319	c.73G>T	c.(73-75)Gga>Tga	p.G25*	ZNFX1_ENST00000371754.4_Nonsense_Mutation_p.G25*|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.G25*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	25							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTAACTCTCCATCCACAGGG	0.483000													16	37					6.94344e-10	9.22622e-10	0.038395	1	0
EFCAB5	374786	broad.mit.edu	37	17	28410034	28410034	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:28410034G>A	ENST00000394835.3	+	18	3744	c.3552G>A	c.(3550-3552)acG>acA	p.T1184T	EFCAB5_ENST00000320856.5_Silent_p.T1060T|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1184							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCATCACTACGTACTTTGTAG	0.488000													14	26					0	0	0.105934	0	0
GRK5	2869	broad.mit.edu	37	10	121196210	121196210	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:121196210C>A	ENST00000392870.2	+	9	1115	c.786C>A	c.(784-786)gtC>gtA	p.V262V	GRK5_ENST00000369108.3_Silent_p.V157V	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	262	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGCTTGGTCCTGACCATCA	0.552000													14	39					3.27435e-08	4.00352e-08	0.020292	1	0
ADRB3	155	broad.mit.edu	37	8	37823632	37823632	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:37823632A>T	ENST00000345060.3	-	1	851	c.356T>A	c.(355-357)cTg>cAg	p.L119Q		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	119					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	GGTCACACACAGCACGTCCAC	0.692000													9	13					0	0	0.058154	0	0
C3orf56	285311	broad.mit.edu	37	3	126915575	126915575	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:126915575G>T	ENST00000398112.1	+	2	287	c.47G>T	c.(46-48)cGt>cTt	p.R16L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AAGGTCCGCCGTGCCTTCGAG	0.607000													7	14					2.7689e-08	3.41419e-08	0.029380	1	0
NCKAP1	10787	broad.mit.edu	37	2	183821252	183821252	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:183821252T>C	ENST00000360982.2	-	21	2867	c.2109A>G	c.(2107-2109)gtA>gtG	p.V703V	NCKAP1_ENST00000361354.3_Silent_p.V697V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	697					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATGTTCCCATACCACCATGT	0.328000													26	70					0	0	0.108266	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53897674	53897674	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:53897674T>C	ENST00000263634.3	-	10	1657	c.1523A>G	c.(1522-1524)gAa>gGa	p.E508G	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.E435G|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.E435G|ASB3_ENST00000406625.2_Missense_Mutation_p.E543G|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E546G	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		543					intracellular signal transduction												TTCTGGAACTTCATACATCCT	0.383000													3	33					0	0	0.004672	0	0
NLRP5	126206	broad.mit.edu	37	19	56539267	56539267	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:56539267C>A	ENST00000390649.3	+	7	1668	c.1668C>A	c.(1666-1668)ctC>ctA	p.L556L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	556	NACHT.					mitochondrion|nucleolus	ATP binding	p.L556L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCAAGGACTCGGGGAGTCTG	0.532000													9	26					0.000274275	0.000290233	0.047766	1	0
USP6	9098	broad.mit.edu	37	17	5064886	5064886	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:5064886C>T	ENST00000574788.1	+	32	5122	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.S647S|USP6_ENST00000250066.6_Silent_p.S964S			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	964					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGGGAACTCCTGTGCTTGGT	0.363000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								15	49					0	0	0.033300	0	0
RANBP2	5903	broad.mit.edu	37	2	109384607	109384607	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:109384607A>T	ENST00000283195.6	+	20	7738	c.7612A>T	c.(7612-7614)Agt>Tgt	p.S2538C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2538					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCGGCAACAGTTCAGCCAC	0.373000													84	246					0	0	0.048971	0	0
ITPK1	3705	broad.mit.edu	37	14	93408113	93408113	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:93408113C>A	ENST00000267615.6	-	11	1211	c.1038G>T	c.(1036-1038)gcG>gcT	p.A346A	ITPK1_ENST00000556603.2_Silent_p.A346A|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Silent_p.A227A			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	346					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCAGGCCGCCCGCCGGCTCGG	0.721000													6	14					0.0293803	0.0294817	0.029380	1	0
FOXG1	2290	broad.mit.edu	37	14	29237287	29237287	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:29237287G>C	ENST00000382535.3	+	2	1171	c.802G>C	c.(802-804)Ggc>Cgc	p.G268R	FOXG1_ENST00000313071.4_Missense_Mutation_p.G268R			P55316	FOXG1_HUMAN	forkhead box G1	268					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTCATCGGCGGCACCACGGG	0.677000													15	33					0	0	0.028581	0	0
GCG	2641	broad.mit.edu	37	2	163002070	163002070	+	Silent	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:163002070C>G	ENST00000418842.2	-	4	626	c.372G>C	c.(370-372)gtG>gtC	p.V124V	GCG_ENST00000375497.3_Silent_p.V124V	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	124					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CTCGGCCTTTCACCAGCCAAG	0.408000													5	154					0	0	0.014758	0	0
VAV3	10451	broad.mit.edu	37	1	108185324	108185324	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:108185324G>T	ENST00000370056.4	-	20	2105	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.L15M|VAV3_ENST00000415432.2_Missense_Mutation_p.L51M|VAV3_ENST00000527011.1_Missense_Mutation_p.L611M	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	611	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCTTCATGCAGAGCTGGGGGT	0.458000													37	93					2.05212e-20	3.53353e-20	0.080422	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622463	234622463	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:234622463A>T	ENST00000373414.3	+	1	826	c.826A>T	c.(826-828)Att>Ttt	p.I276F	UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CATGGTCTTCATTGGGGGCAT	0.488000													52	110					0	0	0.048971	0	0
CTBP1	1487	broad.mit.edu	37	4	1232123	1232123	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:1232123C>T	ENST00000510568.1	-	2	601	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	CTBP1_ENST00000382952.3_Missense_Mutation_p.V4I|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.V15I			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	15	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGAGGTCGGACGCCTGCAAGA	0.667000													20	48					0	0	0.055883	0	0
GPR179	440435	broad.mit.edu	37	17	36485944	36485944	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:36485944G>T	ENST00000342292.4	-	11	3528	c.3508C>A	c.(3508-3510)Cgg>Agg	p.R1170R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1170						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCCTCCCGTTGACAGACT	0.577000													55	162					2.84144e-21	4.92177e-21	0.048971	1	0
ANK1	286	broad.mit.edu	37	8	41555583	41555583	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:41555583A>T	ENST00000396942.1	-	24	2698	c.2615T>A	c.(2614-2616)aTc>aAc	p.I872N	ANK1_ENST00000396945.1_Missense_Mutation_p.I872N|ANK1_ENST00000352337.4_Missense_Mutation_p.I872N|ANK1_ENST00000379758.2_Missense_Mutation_p.I872N|ANK1_ENST00000347528.4_Missense_Mutation_p.I872N|ANK1_ENST00000289734.7_Missense_Mutation_p.I872N|ANK1_ENST00000265709.8_Missense_Mutation_p.I913N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	872					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTGACCTGATCACCACTGT	0.562000													12	26					0	0	0.020292	0	0
KRT72	140807	broad.mit.edu	37	12	52984735	52984735	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:52984735A>C	ENST00000293745.2	-	6	1059	c.974T>G	c.(973-975)cTg>cGg	p.L325R	KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Missense_Mutation_p.L137R|KRT72_ENST00000537672.2_Missense_Mutation_p.L325R	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	325	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTGACCTGCAGCTCCTGGAT	0.547000													17	46					0	0	0.033300	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961268	51961268	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:51961268C>T	ENST00000321424.3	-	1	440	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125Q|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125Q	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCTCTAGCCGAAAGAAATA	0.498000													62	112					0	0	0.048971	0	0
ARAP3	64411	broad.mit.edu	37	5	141050083	141050083	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:141050083C>A	ENST00000239440.4	-	14	2168	c.2103G>T	c.(2101-2103)cgG>cgT	p.R701R	ARAP3_ENST00000513878.1_Silent_p.R363R|ARAP3_ENST00000508305.1_Silent_p.R603R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	701					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTCACCATCCCGGCCCCTGC	0.602000													42	121					2.24722e-20	3.84671e-20	0.048971	1	0
TBL1Y	90665	broad.mit.edu	37	Y	6954409	6954409	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrY:6954409C>T	ENST00000383032.1	+	16	1878	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P411S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P411S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	411					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CAAGTGGAGCCCCACCGGGCC	0.552000													10	4					0	0	0.069234	0	0
OR1J4	26219	broad.mit.edu	37	9	125282323	125282323	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:125282323G>A	ENST00000340750.1	+	1	904	c.904G>A	c.(904-906)Gag>Aag	p.E302K		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGGAGCCCTGGAGAGACTCTT	0.423000													14	38					0	0	0.024245	0	0
NOX4	50507	broad.mit.edu	37	11	89070683	89070683	+	Splice_Site	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:89070683A>T	ENST00000535633.1	-	16	1685	c.1374_splice	c.e16-1	p.F459_splice	NOX4_ENST00000534731.1_Splice_Site_p.F443_splice|NOX4_ENST00000343727.5_Splice_Site_p.F459_splice|NOX4_ENST00000528341.1_Splice_Site_p.F458_splice|NOX4_ENST00000525196.1_Splice_Site_p.F247_splice|NOX4_ENST00000263317.4_Splice_Site_p.F483_splice|NOX4_ENST00000532825.1_Splice_Site_p.F419_splice|NOX4_ENST00000531342.1_Splice_Site_p.F136_splice|NOX4_ENST00000375979.3_Splice_Site_p.F176_splice|NOX4_ENST00000542487.1_Splice_Site_p.F459_splice|NOX4_ENST00000527956.1_Splice_Site_p.F459_splice|NOX4_ENST00000527626.1_Splice_Site_p.F296_splice|NOX4_ENST00000413594.2_Splice_Site_p.F504_splice|NOX4_ENST00000424319.1_Splice_Site_p.F459_splice	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	483	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TCTTGCCAAAACTGAGAGGAC	0.363000													11	32					0	0	0.033300	0	0
BACH1	571	broad.mit.edu	37	21	30699100	30699100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:30699100G>T	ENST00000399921.1	+	3	1198	c.955G>T	c.(955-957)Gga>Tga	p.G319*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.G319*	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	319						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGACCCTCATGGACTTTATTC	0.398000													51	120					9.40368e-32	1.69967e-31	0.048971	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347559	140347559	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140347559G>T	ENST00000289269.5	+	1	1740	c.1208G>T	c.(1207-1209)gGt>gTt	p.G403V	PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		403	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCCTGGGTCTGGAGGCC	0.567000													20	85					0.00152264	0.00158813	0.055883	1	0
UNC13C	440279	broad.mit.edu	37	15	54919169	54919169	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:54919169G>T	ENST00000545554.1	+	32	6503	c.6503G>T	c.(6502-6504)tGg>tTg	p.W2168L	UNC13C_ENST00000539562.2_Missense_Mutation_p.W89L|UNC13C_ENST00000537900.1_Missense_Mutation_p.W2166L|UNC13C_ENST00000260323.11_Missense_Mutation_p.W2168L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2168					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)		TATGGGGCATGGTATCCTCTT	0.403000													18	51					3.99206e-14	5.98809e-14	0.043863	1	0
C8orf37	157657	broad.mit.edu	37	8	96272100	96272100	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:96272100A>C	ENST00000286688.5	-	4	353	c.342T>G	c.(340-342)atT>atG	p.I114M		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	114										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCCCACATGGAATAGAGCTTC	0.358000													30	57					0	0	0.059317	0	0
BCL9L	283149	broad.mit.edu	37	11	118773311	118773311	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:118773311C>A	ENST00000334801.3	-	6	2105	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	381	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGCCTCCCCCAGCAGGGCA	0.692000													15	40					6.94344e-10	9.22622e-10	0.038395	1	0
FLG	2312	broad.mit.edu	37	1	152284875	152284875	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:152284875G>T	ENST00000368799.1	-	3	2522	c.2487C>A	c.(2485-2487)tcC>tcA	p.S829S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	829	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGCCTGGAGTTGTCTC	0.567000									Ichthyosis				273	297					4.78259e-89	9.0963e-89	0.048971	1	0
ZNF578	147660	broad.mit.edu	37	19	53014459	53014459	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:53014459A>T	ENST00000421239.2	+	6	1069	c.825A>T	c.(823-825)gcA>gcT	p.A275A		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GATACCTTGCACGCCATCGTA	0.378000													37	97					0	0	0.064281	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077389	19077389	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:19077389A>T	ENST00000329773.2	-	2	648	c.561T>A	c.(559-561)acT>acA	p.T187T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	187					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCCACGCTGCAGTGATGAAAT	0.527000													25	34					0	0	0.083992	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336510	30336510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:30336510C>A	ENST00000375377.1	-	2	333	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	78										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCCGTGGCCTCTCGGTGTG	0.612000													8	52					0.000157383	0.000169624	0.038147	1	0
F5	2153	broad.mit.edu	37	1	169519078	169519078	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:169519078T>A	ENST00000367796.3	-	10	1773	c.1572A>T	c.(1570-1572)ctA>ctT	p.L524L	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Silent_p.L524L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	524	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTTACAGATTAGAAGTAGTC	0.428000													18	89					0	0	0.049695	0	0
REV1	51455	broad.mit.edu	37	2	100021119	100021119	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:100021119C>G	ENST00000258428.3	-	18	3061	c.2833G>C	c.(2833-2835)Gca>Cca	p.A945P	REV1_ENST00000393445.3_Missense_Mutation_p.A944P|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	945					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGAAGTGCTTCTAAAACA	0.438000								Direct reversal of damage					24	49					0	0	0.083992	0	0
FLRT2	23768	broad.mit.edu	37	14	86089443	86089443	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:86089443C>A	ENST00000330753.4	+	2	2352	c.1585C>A	c.(1585-1587)Cat>Aat	p.H529N	FLRT2_ENST00000554746.1_Missense_Mutation_p.H529N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	529					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCGTCCAGCCATGAGCAGAC	0.577000													37	107					3.33393e-15	5.10618e-15	0.074837	1	0
AOX1	316	broad.mit.edu	37	2	201523986	201523986	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:201523986G>T	ENST00000374700.2	+	28	3511	c.3270G>T	c.(3268-3270)gtG>gtT	p.V1090V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1090					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAGGTTCTGTGGTGGCAGATC	0.502000													25	101					9.04412e-07	1.05274e-06	0.099896	1	0
COL8A2	1296	broad.mit.edu	37	1	36564428	36564428	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:36564428G>T	ENST00000397799.1	-	4	1078	c.854C>A	c.(853-855)gCa>gAa	p.A285E	COL8A2_ENST00000303143.4_Missense_Mutation_p.A285E|COL8A2_ENST00000481785.1_Missense_Mutation_p.A220E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	285	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAACCCTGCTGCCCCTGGGAC	0.692000													12	29					3.07112e-06	3.50469e-06	0.080935	1	0
LRP1B	53353	broad.mit.edu	37	2	141739834	141739834	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:141739834G>T	ENST00000389484.3	-	18	3753	c.2782C>A	c.(2782-2784)Cag>Aag	p.Q928K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	928	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTCTACCTGGCATGTTCTG	0.408000										TSP Lung(27;0.18)			11	41					6.40141e-05	7.00305e-05	0.080935	1	0
LHFP	10186	broad.mit.edu	37	13	39952639	39952639	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:39952639G>A	ENST00000379589.3	-	3	872	c.410C>T	c.(409-411)gCc>gTc	p.A137V		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	137						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GGGGTAGAGGGCACAGCCAGC	0.507000			T	HMGA2	lipoma								16	38					0	0	0.028581	0	0
NEB	4703	broad.mit.edu	37	2	152507201	152507201	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:152507201A>T	ENST00000427231.2	-	53	7316	c.7114T>A	c.(7114-7116)Tgt>Agt	p.C2372S	NEB_ENST00000603639.1_Missense_Mutation_p.C2372S|NEB_ENST00000409198.1_Missense_Mutation_p.C2372S|NEB_ENST00000172853.10_Missense_Mutation_p.C2372S|NEB_ENST00000397345.3_Missense_Mutation_p.C2372S|NEB_ENST00000604864.1_Missense_Mutation_p.C2372S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2372					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACTCCTGACACTTCTTGGCC	0.448000													78	211					0	0	0.048971	0	0
TGM2	7052	broad.mit.edu	37	20	36768012	36768012	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:36768012C>A	ENST00000361475.2	-	9	1317	c.1144G>T	c.(1144-1146)Ggc>Tgc	p.G382C	TGM2_ENST00000536701.1_Missense_Mutation_p.G301C|TGM2_ENST00000536724.1_Missense_Mutation_p.G322C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	382					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CTCAGGTCGCCCTCCTTGATG	0.587000													9	29					2.17888e-05	2.42932e-05	0.058154	1	0
RANGAP1	5905	broad.mit.edu	37	22	41670684	41670684	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:41670684G>A	ENST00000455915.2	-	2	1629	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	RANGAP1_ENST00000356244.3_Silent_p.L54L|RANGAP1_ENST00000407260.4_Silent_p.L44L|RANGAP1_ENST00000405486.1_Silent_p.L54L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	54					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGACGCAGAGCCTCCAAG	0.512000													7	100					0	0	0.038147	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196292	118196292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:118196292C>A	ENST00000369230.3	+	2	265	c.119C>A	c.(118-120)aCa>aAa	p.T40K		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	40					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACTTTCTCAACAGAGTTGGTA	0.433000													22	67					1.36565e-18	2.25797e-18	0.076483	1	0
PCDHA13	56136	broad.mit.edu	37	5	140264050	140264050	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140264050G>T	ENST00000289272.2	+	1	2197	c.2197G>T	c.(2197-2199)Gcg>Tcg	p.A733S	PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A733S|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.A733T(1)		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)			GGGCGCGTGCGCGCCGGGCAA	0.672000													26	92					1.03484e-13	1.53642e-13	0.080422	1	0
CDH7	1005	broad.mit.edu	37	18	63430170	63430170	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr18:63430170G>T	ENST00000536984.2	+	2	786	c.92G>T	c.(91-93)aGg>aTg	p.R31M	CDH7_ENST00000323011.3_Missense_Mutation_p.R31M|CDH7_ENST00000397968.2_Missense_Mutation_p.R31M			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	31					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAACTCTCAAGGTCCAGATCA	0.468000													15	30					8.60227e-14	1.28372e-13	0.028581	1	0
HPSE2	60495	broad.mit.edu	37	10	100219443	100219443	+	Missense_Mutation	SNP	G	G	T	rs138866975		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:100219443G>T	ENST00000370552.3	-	12	1726	c.1667C>A	c.(1666-1668)cCa>cAa	p.P556Q	HPSE2_ENST00000370549.1_Missense_Mutation_p.P498Q|HPSE2_ENST00000404542.1_Missense_Mutation_p.P444Q|HPSE2_ENST00000370546.1_3'UTR	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	556					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTTCAATTCTGGGAGGGTCCC	0.537000													11	19					3.86212e-05	4.25711e-05	0.069234	1	0
RGL1	23179	broad.mit.edu	37	1	183881336	183881336	+	Silent	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:183881336G>C	ENST00000304685.3	+	16	2249	c.1788G>C	c.(1786-1788)tcG>tcC	p.S596S	RGL1_ENST00000367531.1_Silent_p.S596S|RGL1_ENST00000536277.1_Silent_p.S559S|RGL1_ENST00000360851.3_Silent_p.S561S|RGL1_ENST00000539189.1_Silent_p.S532S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	561	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCTGCGAGTCGAACCACTCAG	0.532000													19	55					0	0	0.049695	0	0
EPHA7	2045	broad.mit.edu	37	6	94066441	94066441	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:94066441G>T	ENST00000369303.4	-	5	1502	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	440						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATACCTGCTTGACCAGTGGTG	0.408000													23	52					3.01185e-09	3.87809e-09	0.091800	1	0
INTS1	26173	broad.mit.edu	37	7	1538656	1538656	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:1538656C>A	ENST00000389470.4	-	9	1475	c.1476G>T	c.(1474-1476)cgG>cgT	p.R492R	INTS1_ENST00000404767.3_Silent_p.R364R			Q8N201	INT1_HUMAN	integrator complex subunit 1	364					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGCCAGCAGCCGCACCTCCT	0.701000													6	4					3.59834e-05	3.98143e-05	0.021553	1	0
FAR1	84188	broad.mit.edu	37	11	13722001	13722001	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:13722001C>T	ENST00000354817.3	+	3	471	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	109					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATATTATATTCCACTGTGCAG	0.303000													6	67					0	0	0.038147	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	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)			9	7					6.40141e-05	7.00305e-05	0.080935	1	0
NDUFV3	4731	broad.mit.edu	37	21	44323690	44323690	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:44323690G>T	ENST00000354250.2	+	3	637	c.568G>T	c.(568-570)Gcc>Tcc	p.A190S	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	21					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AAAACCAGAGGCCTCTCATTC	0.502000													40	72					4.14481e-20	7.05345e-20	0.086207	1	0
SPINK4	27290	broad.mit.edu	37	9	33248442	33248442	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:33248442C>A	ENST00000379725.1	+	5	425	c.303C>A	c.(301-303)atC>atA	p.I101I	SPINK4_ENST00000379721.3_Silent_p.I78I|SPINK4_ENST00000379723.1_Silent_p.I101I			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	78						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			AACAGGACATCCAGATCATGA	0.498000													5	30					0.000602214	0.000634943	0.014758	1	0
INPP5D	3635	broad.mit.edu	37	2	234091102	234091102	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:234091102C>A	ENST00000359570.5	+	21	2082	c.2082C>A	c.(2080-2082)gcC>gcA	p.A694A	INPP5D_ENST00000455936.2_Silent_p.A458A|INPP5D_ENST00000450745.1_Silent_p.A458A|INPP5D_ENST00000538935.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	706					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)		CTGTCTTTGCCACATTTGAGG	0.517000													20	66					1.28384e-07	1.53114e-07	0.062417	1	0
RFX6	222546	broad.mit.edu	37	6	117198593	117198593	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:117198593A>T	ENST00000332958.2	+	1	171	c.155A>T	c.(154-156)cAg>cTg	p.Q52L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	52					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCGAAGGGCAGCCCGGGGGC	0.657000													3	9					0	0	0.009096	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718430	24718430	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:24718430T>A	ENST00000314328.9	+	5	1767	c.1482T>A	c.(1480-1482)cgT>cgA	p.R494R	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.R494R|KB-1896H10.1_ENST00000358654.2_Silent_p.R494R|SPECC1L_ENST00000437398.1_Silent_p.R494R	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	494					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TAGAGCAACGTTACATGGACC	0.418000													34	89					0	0	0.069456	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159549	242159549	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:242159549G>T	ENST00000357246.3	-	4	424	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	120					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCCTGGGAGGCGTAGGTCA	0.567000													24	59					3.6726e-16	5.74585e-16	0.091800	1	0
XIST	7503	broad.mit.edu	37	X	73067641	73067641	+	RNA	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:73067641G>T	ENST00000429829.1	-	0	4947					NR_001564.2																						TAATGTAAAAGGGGTAGAATA	0.373000													23	21					3.5997e-14	5.42753e-14	0.069288	1	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													6	27					0	0	0.021553	0	0
MKRN3	7681	broad.mit.edu	37	15	23811970	23811970	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:23811970G>T	ENST00000314520.3	+	1	1517	c.1041G>T	c.(1039-1041)tgG>tgT	p.W347C	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.W107C	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	347						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.W347C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCGCAGGTGGAGAAGTGCCA	0.517000													31	77					4.02929e-09	5.1653e-09	0.045705	1	0
CALCR	799	broad.mit.edu	37	7	93116272	93116272	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:93116272G>A	ENST00000359558.2	-	4	375	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CALCR_ENST00000426151.1_Missense_Mutation_p.R8W|CALCR_ENST00000421592.1_Missense_Mutation_p.R8W|CALCR_ENST00000360249.4_Missense_Mutation_p.R8W|CALCR_ENST00000394441.1_Missense_Mutation_p.R8W	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	8					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			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)	GCCAAGCACCGGCTTGTAAAT	0.313000													32	84					0	0	0.059317	0	0
TRPV3	162514	broad.mit.edu	37	17	3432144	3432144	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:3432144G>C	ENST00000301365.4	-	10	1519	c.1388C>G	c.(1387-1389)cCc>cGc	p.P463R	TRPV3_ENST00000572519.1_Missense_Mutation_p.P463R|TRPV3_ENST00000576742.1_Missense_Mutation_p.P463R			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	463						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CTCCTCCCGGGGGCGGTAGTA	0.562000													20	44					0	0	0.069288	0	0
RBM6	10180	broad.mit.edu	37	3	50006042	50006042	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:50006042G>T	ENST00000443081.1	+	3	1707	c.788G>T	c.(787-789)gGg>gTg	p.G263V	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.G395V|RBM6_ENST00000539992.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	395					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)		GACTTTCTTGGGCGGCAAGAC	0.493000													27	63					3.65163e-15	5.56348e-15	0.030593	1	0
CPT1C	126129	broad.mit.edu	37	19	50212025	50212025	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:50212025G>T	ENST00000392518.4	+	14	1867	c.1495G>T	c.(1495-1497)Ggc>Tgc	p.G499C	CPT1C_ENST00000323446.5_Missense_Mutation_p.G499C|CPT1C_ENST00000354199.5_Missense_Mutation_p.G499C|CPT1C_ENST00000405931.2_Missense_Mutation_p.G488C|CPT1C_ENST00000598293.1_Missense_Mutation_p.G499C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	499					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCAACAGACGGCCACTGCAA	0.612000													21	85					7.45023e-12	1.04232e-11	0.055883	1	0
PHF3	23469	broad.mit.edu	37	6	64394074	64394074	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:64394074A>G	ENST00000262043.3	+	4	791	c.451A>G	c.(451-453)Aat>Gat	p.N151D	PHF3_ENST00000509330.1_Missense_Mutation_p.N151D|PHF3_ENST00000393387.1_Missense_Mutation_p.N151D			Q92576	PHF3_HUMAN	PHD finger protein 3	151					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)			CAAGCGTTCAAATGCAGCACC	0.373000													48	117					0	0	0.048971	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967073	64967073	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:64967073G>A	ENST00000399262.2	-	10	4574	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	JMJD1C_ENST00000399251.1_Silent_p.T1233T|JMJD1C_ENST00000402544.1_Silent_p.T1233T|JMJD1C_ENST00000542921.1_Silent_p.T1270T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1452					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGGTGCTGTGGTGCTGACCT	0.408000													44	101					0	0	0.042209	0	0
USH2A	7399	broad.mit.edu	37	1	215960025	215960025	+	Silent	SNP	C	C	A	rs137963595	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:215960025C>A	ENST00000366943.2	-	52	10760	c.10374G>T	c.(10372-10374)acG>acT	p.T3458T	USH2A_ENST00000307340.3_Silent_p.T3458T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3458	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTAAGAGTACGTGTTTACAC	0.433000										HNSCC(13;0.011)			9	59					0.000274275	0.000290233	0.047766	1	0
MICAL2	9645	broad.mit.edu	37	11	12183922	12183922	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:12183922T>C	ENST00000256194.4	+	3	508	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	MICAL2_ENST00000527546.1_Missense_Mutation_p.S74P|MICAL2_ENST00000537344.1_Missense_Mutation_p.S74P|MICAL2_ENST00000342902.5_Missense_Mutation_p.S74P|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74P	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	74						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TAAGCGTGGTTCCCACAAAGA	0.507000													11	28					0	0	0.069234	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507613	74507613	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:74507613C>A	ENST00000354431.4	-	7	1193	c.1002G>T	c.(1000-1002)caG>caT	p.Q334H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.Q334H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	334										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTCAGACTCCTGACCTACAT	0.299000													9	16					0.000274275	0.000290233	0.047766	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255495	15255495	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr10:15255495C>G	ENST00000378116.4	-	8	2098	c.2092G>C	c.(2092-2094)Ggt>Cgt	p.G698R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	698						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCTTCCCACCCCCAAGCTCC	0.582000													29	73					0	0	0.037714	0	0
BAZ2B	29994	broad.mit.edu	37	2	160189152	160189152	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:160189152G>A	ENST00000392783.2	-	34	6337	c.5842C>T	c.(5842-5844)Ctt>Ttt	p.L1948F	BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1848F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1912F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1914F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			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						CCATCACAAAGAAGAAGCAGT	0.383000													16	55					0	0	0.038395	0	0
PTPRB	5787	broad.mit.edu	37	12	70988333	70988333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:70988333C>A	ENST00000334414.6	-	6	1474	c.1430G>T	c.(1429-1431)gGg>gTg	p.G477V	PTPRB_ENST00000538708.1_Missense_Mutation_p.G259V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G259V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G476V|PTPRB_ENST00000550857.1_Missense_Mutation_p.G259V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G477V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G259V|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	259	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)			AGGGGTCAGCCCGTGAAAAGC	0.502000													32	59					1.74807e-11	2.42232e-11	0.045705	1	0
CDH19	28513	broad.mit.edu	37	18	64211401	64211401	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr18:64211401C>A	ENST00000262150.2	-	7	1313	c.1021G>T	c.(1021-1023)Gtt>Ttt	p.V341F	CDH19_ENST00000540086.1_Missense_Mutation_p.V341F	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	341	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGCTCAGGAACATGATGGTTT	0.418000													8	39					0.00307968	0.00315559	0.038147	1	0
ZNF217	7764	broad.mit.edu	37	20	52198208	52198208	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:52198208G>T	ENST00000371471.2	-	2	1583	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	ZNF217_ENST00000302342.3_Silent_p.T386T			O75362	ZN217_HUMAN	zinc finger protein 217	386					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCTGGTGGTAGGTTCTGAAAG	0.647000													17	46					4.14922e-12	5.83296e-12	0.028581	1	0
THEMIS	387357	broad.mit.edu	37	6	128134635	128134635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:128134635G>T	ENST00000368250.1	-	5	1412	c.914C>A	c.(913-915)tCt>tAt	p.S305Y	THEMIS_ENST00000368248.2_Missense_Mutation_p.S384Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.S384Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.S349Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	384	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCCCCAACAGATACGGATGA	0.488000													34	77					3.11337e-16	4.89725e-16	0.054565	1	0
ZNF98	148198	broad.mit.edu	37	19	22605005	22605005	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:22605005G>T	ENST00000357774.5	-	1	143	c.22C>A	c.(22-24)Cta>Ata	p.L8I	ZNF98_ENST00000601553.1_Missense_Mutation_p.L8I	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACCATTTCTAGGCTTCCAAGG	0.612000													47	76					5.34276e-22	9.36591e-22	0.048971	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	49					0	0	0.009096	0	0
DNAH10	196385	broad.mit.edu	37	12	124395175	124395175	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:124395175G>T	ENST00000409039.3	+	58	9761	c.9736G>T	c.(9736-9738)Ggc>Tgc	p.G3246C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3246	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCTGTAATGGGCTACTGTGA	0.473000													20	45					1.78486e-19	3.00229e-19	0.043863	1	0
ARSF	416	broad.mit.edu	37	X	3019232	3019232	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:3019232C>A	ENST00000381127.1	+	8	1293	c.1072C>A	c.(1072-1074)Caa>Aaa	p.Q358K	ARSF_ENST00000359361.2_Missense_Mutation_p.Q358K|ARSF_ENST00000537104.1_Missense_Mutation_p.Q358K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	358						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCATGCCCAACTTGGTGG	0.438000													37	25					9.73076e-26	1.73721e-25	0.092188	1	0
UNC13C	440279	broad.mit.edu	37	15	54527297	54527297	+	Silent	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:54527297C>T	ENST00000545554.1	+	4	3141	c.3141C>T	c.(3139-3141)gtC>gtT	p.V1047V	UNC13C_ENST00000537900.1_Silent_p.V1047V|UNC13C_ENST00000260323.11_Silent_p.V1047V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					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)		TGCCTATTGTCCGAGATGTGG	0.383000													6	32					0	0	0.038147	0	0
DYSF	8291	broad.mit.edu	37	2	71791305	71791305	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:71791305G>A	ENST00000258104.3	+	24	2750	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	DYSF_ENST00000409582.3_Missense_Mutation_p.G842S|DYSF_ENST00000394120.2_Missense_Mutation_p.G826S|DYSF_ENST00000409744.1_Missense_Mutation_p.G812S|DYSF_ENST00000429174.2_Missense_Mutation_p.G825S|DYSF_ENST00000413539.2_Missense_Mutation_p.G856S|DYSF_ENST00000410041.1_Missense_Mutation_p.G843S|DYSF_ENST00000409651.1_Missense_Mutation_p.G857S|DYSF_ENST00000409366.1_Missense_Mutation_p.G826S|DYSF_ENST00000410020.3_Missense_Mutation_p.G843S|DYSF_ENST00000409762.1_Missense_Mutation_p.G842S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	825						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAACTACTGTGGCAAGAATTG	0.512000													32	77					0	0	0.045705	0	0
CLUH	23277	broad.mit.edu	37	17	2603704	2603704	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:2603704C>A	ENST00000570628.1	-	9	1229	c.1124G>T	c.(1123-1125)cGg>cTg	p.R375L	CLUH_ENST00000538975.1_Missense_Mutation_p.R375L|CLUH_ENST00000435359.1_Missense_Mutation_p.R375L|CLUH_ENST00000575014.1_Missense_Mutation_p.R307L					clustered mitochondria (cluA/CLU1) homolog																		TCGGAGCAGCCGCTCAGGCAG	0.607000													4	20					0.0215528	0.0217019	0.021553	1	0
NLRP2	55655	broad.mit.edu	37	19	55495055	55495055	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:55495055G>A	ENST00000543010.1	+	6	2132	c.1989G>A	c.(1987-1989)ccG>ccA	p.P663P	NLRP2_ENST00000391721.4_Silent_p.P639P|NLRP2_ENST00000339757.7_Silent_p.P641P|NLRP2_ENST00000538819.1_Silent_p.P639P|NLRP2_ENST00000263437.6_Silent_p.P660P|NLRP2_ENST00000537859.1_Silent_p.P641P|NLRP2_ENST00000448584.2_Silent_p.P663P|NLRP2_ENST00000427260.2_Silent_p.P640P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAATCTCCCGGAGAATGTCA	0.488000													16	50					0	0	0.038395	0	0
CD1E	913	broad.mit.edu	37	1	158324171	158324171	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158324171C>A	ENST00000368160.3	+	2	63	c.63C>A	c.(61-63)ccC>ccA	p.P21P	CD1E_ENST00000368165.3_Silent_p.P21P|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368156.1_Silent_p.P21P|CD1E_ENST00000368155.3_Silent_p.P21P|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Silent_p.P21P|CD1E_ENST00000434258.1_Silent_p.P19P|CD1E_ENST00000368163.3_Silent_p.P21P|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Silent_p.P21P	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	21					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTCAGCTCCCCAGGCTCTAC	0.502000													94	98					1.76403e-45	3.29059e-45	0.048971	1	0
RXFP2	122042	broad.mit.edu	37	13	32352717	32352717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:32352717G>A	ENST00000298386.2	+	9	853	c.782G>A	c.(781-783)tGg>tAg	p.W261*	RXFP2_ENST00000380314.1_Nonsense_Mutation_p.W261*	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	261						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAACTCAACTGGGTGTGAGTA	0.328000													29	100					0	0	0.045705	0	0
RGPD4	285190	broad.mit.edu	37	2	108475962	108475962	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:108475962A>C	ENST00000408999.3	+	11	1663	c.1586A>C	c.(1585-1587)cAa>cCa	p.Q529P	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q529P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	529					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACAGAAAGACAAAAATCTTGG	0.398000													80	264					0	0	0.048971	0	0
KDR	3791	broad.mit.edu	37	4	55981449	55981449	+	Splice_Site	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:55981449G>T	ENST00000263923.4	-	4	783	c.489_splice	c.e4+1	p.A163_splice		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	163	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.A163E(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCAACTTACTGCACAAAGTGA	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			11	20					1.08611e-07	1.30602e-07	0.080935	1	0
ZNF551	90233	broad.mit.edu	37	19	58199618	58199618	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:58199618A>G	ENST00000282296.5	+	3	2160	c.1975A>G	c.(1975-1977)Att>Gtt	p.I659V	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.I643V	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCTAACCTCATTCGACATCG	0.428000													35	72					0	0	0.069456	0	0
DOPEY1	23033	broad.mit.edu	37	6	83823102	83823102	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:83823102G>A	ENST00000349129.2	+	7	1002	c.742G>A	c.(742-744)Gac>Aac	p.D248N	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D248N|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D248N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	248					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCACACTGGACCTCATACT	0.373000													17	56					0	0	0.055883	0	0
SI	6476	broad.mit.edu	37	3	164767594	164767594	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:164767594G>C	ENST00000264382.3	-	14	1644	c.1582C>G	c.(1582-1584)Cca>Gca	p.P528A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	528	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAAACGGTGGATAATTCAAT	0.279000										HNSCC(35;0.089)			10	36					0	0	0.080935	0	0
GTPBP10	85865	broad.mit.edu	37	7	89984398	89984398	+	Splice_Site	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:89984398A>T	ENST00000222511.6	+	4	385		c.e4-1		GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)						ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CCTCTTTTTAAGGAGAACTCA	0.318000													21	44					0	0	0.062417	0	0
CRNKL1	51340	broad.mit.edu	37	20	20024248	20024248	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:20024248G>A	ENST00000377340.2	-	8	1374	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	CRNKL1_ENST00000377327.4_Missense_Mutation_p.A436V|CRNKL1_ENST00000536226.1_Missense_Mutation_p.A287V	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	448					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GAGTTCTTGGGCATCTTGTTT	0.373000													33	73					0	0	0.045705	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152220570	152220570	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:152220570C>A	ENST00000243347.3	+	2	283	c.208C>A	c.(208-210)Cag>Aag	p.Q70K		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	70	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		AACTTACAAGCAGCTAGAGGC	0.433000													9	27					0.00448238	0.00456074	0.047766	1	0
WBSCR17	64409	broad.mit.edu	37	7	71175827	71175827	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:71175827G>T	ENST00000333538.5	+	10	2216	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	528	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGCTGCCTGGTGGACAACTC	0.607000													19	66					1.56452e-12	2.26506e-12	0.043863	1	0
RYR3	6263	broad.mit.edu	37	15	33925217	33925217	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:33925217C>A	ENST00000389232.4	+	24	3005	c.2935C>A	c.(2935-2937)Caa>Aaa	p.Q979K	RYR3_ENST00000415757.3_Missense_Mutation_p.Q979K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	979	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTACCTCCTCAAGAAATTTT	0.378000													23	70					3.83957e-06	4.36451e-06	0.076483	1	0
DMRT3	58524	broad.mit.edu	37	9	990397	990397	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:990397C>A	ENST00000190165.2	+	2	849	c.811C>A	c.(811-813)Ctc>Atc	p.L271I		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	271					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGAGCTCATCCTCAAGGGCTG	0.562000													28	47					9.65963e-10	1.27771e-09	0.059317	1	0
RUVBL1	8607	broad.mit.edu	37	3	127823653	127823653	+	Missense_Mutation	SNP	A	A	C	rs150247734		TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:127823653A>C	ENST00000464873.1	-	4	1046	c.296T>G	c.(295-297)aTa>aGa	p.I99R	RUVBL1_ENST00000417360.1_Missense_Mutation_p.I159R|RUVBL1_ENST00000322623.5_Missense_Mutation_p.I159R			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	159					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		tttgagtcctatgatcacatg	0.473000													18	40					0	0	0.033300	0	0
ARAP2	116984	broad.mit.edu	37	4	36109211	36109211	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:36109211C>T	ENST00000303965.4	-	27	4750	c.4261G>A	c.(4261-4263)Gct>Act	p.A1421T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1421					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATTGTGTCAGCGGTTAAGAAT	0.423000													26	72					0	0	0.034045	0	0
SVEP1	79987	broad.mit.edu	37	9	113169975	113169975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:113169975C>A	ENST00000401783.2	-	38	8241	c.7905G>T	c.(7903-7905)gaG>gaT	p.E2635D	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2612D|SVEP1_ENST00000297826.5_Missense_Mutation_p.E561D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2635					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGTCTTCTTGCTCAAAATATC	0.443000													51	166					1.22102e-19	2.06579e-19	0.048971	1	0
RTCB	51493	broad.mit.edu	37	22	32802692	32802692	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr22:32802692C>A	ENST00000216038.5	-	4	395	c.297G>T	c.(295-297)atG>atT	p.M99I	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_Missense_Mutation_p.M99I	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CAAAGGCTGCCATGTTCCCAA	0.458000													46	113					2.37804e-12	3.40891e-12	0.048971	1	0
PRB4	5545	broad.mit.edu	37	12	11461220	11461220	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:11461220C>A	ENST00000279575.1	-	3	730	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	PRB4_ENST00000445719.2_Missense_Mutation_p.G164W|PRB4_ENST00000535904.1_Missense_Mutation_p.G233W	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	296	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGCCTGCCCCCTTGAGGAGGT	0.582000										HNSCC(22;0.051)			60	142					3.00467e-41	5.56916e-41	0.048971	1	0
LINC00477	144360	broad.mit.edu	37	12	24736367	24736367	+	RNA	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:24736367T>A	ENST00000483544.1	-	0	735					NR_029451.2																						GAGACCACGCTGCGTGCCAGA	0.557000													7	21					0	0	0.029380	0	0
TLN1	7094	broad.mit.edu	37	9	35722169	35722169	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:35722169C>A	ENST00000314888.9	-	9	1248	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TLN1_ENST00000540444.1_Missense_Mutation_p.V299L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	299	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTAGCTTCACGTAGCGGACC	0.488000													22	50					1.77063e-15	2.72621e-15	0.108266	1	0
BBS9	27241	broad.mit.edu	37	7	33313545	33313545	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:33313545A>T	ENST00000242067.6	+	9	1514	c.993A>T	c.(991-993)gtA>gtT	p.V331V	BBS9_ENST00000396127.2_Silent_p.V331V|BBS9_ENST00000355070.2_Silent_p.V331V|BBS9_ENST00000425508.2_Silent_p.V286V|BBS9_ENST00000350941.3_Silent_p.V331V|BBS9_ENST00000354265.4_Silent_p.V331V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	331					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACATTCCTGTAGCAGTAAGAG	0.343000									Bardet-Biedl syndrome				12	40					0	0	0.105934	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575712	86575712	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:86575712A>T	ENST00000322911.6	-	6	597	c.547T>A	c.(547-549)Tgc>Agc	p.C183S	MTHFSD_ENST00000360900.6_Missense_Mutation_p.C184S|MTHFSD_ENST00000546093.1_Missense_Mutation_p.C21S|MTHFSD_ENST00000543303.2_Missense_Mutation_p.C183S|MTHFSD_ENST00000381214.5_Missense_Mutation_p.C184S	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	184					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCACCTGGCAGTCGTGGACG	0.577000													15	48					0	0	0.028581	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809787	16809787	+	RNA	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:16809787C>G	ENST00000263511.4	-	0	1998					NR_023386.1																						GGCACCTTCTCAGGAGCTCTT	0.627000													3	3					0	0	0.004672	0	0
KEAP1	9817	broad.mit.edu	37	19	10602739	10602739	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:10602739A>T	ENST00000171111.5	-	3	1386	c.839T>A	c.(838-840)tTc>tAc	p.F280Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.F280Y|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	280	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATCTGCAGGAAGTTCGGCGT	0.617000													31	41					0	0	0.059317	0	0
AKR1A1	10327	broad.mit.edu	37	1	46033774	46033774	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:46033774G>T	ENST00000372070.3	+	6	1224	c.477G>T	c.(475-477)ctG>ctT	p.L159L	AKR1A1_ENST00000351829.4_Silent_p.L159L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	159					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCGCTGGGCCTGTCCA	0.562000													4	27					0.00909568	0.00922245	0.009096	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			48	165					3.89483e-19	6.51376e-19	0.048971	1	0
MNDA	4332	broad.mit.edu	37	1	158815601	158815601	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158815601C>A	ENST00000368141.4	+	5	1056	c.795C>A	c.(793-795)gtC>gtA	p.V265V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	265	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGAAGGTCATTACCATAT	0.353000													45	41					9.85913e-13	1.4345e-12	0.111260	1	0
RCBTB2	1102	broad.mit.edu	37	13	49076859	49076859	+	Splice_Site	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:49076859C>A	ENST00000344532.3	-	11	1541		c.e11+1		RCBTB2_ENST00000430805.2_Splice_Site|RCBTB2_ENST00000544492.1_Splice_Site	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2								Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACCAGCTTACCCACGGAGAG	0.547000													16	63					1.55795e-14	2.36126e-14	0.062417	1	0
CACNA1B	774	broad.mit.edu	37	9	140954117	140954117	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:140954117A>T	ENST00000277549.5	+	32	4753	c.2184A>T	c.(2182-2184)agA>agT	p.R728S	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1532S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1533S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1533S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1532S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1532S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1532					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACTATTTCAGAGATGCCTGGA	0.428000													36	84					0	0	0.080422	0	0
RIN2	54453	broad.mit.edu	37	20	19970827	19970827	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:19970827A>T	ENST00000255006.6	+	9	2236	c.2087A>T	c.(2086-2088)gAt>gTt	p.D696V	RIN2_ENST00000440354.2_Missense_Mutation_p.D214V|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	647	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGACCCCTGATTTTGTGGAT	0.537000													5	8					0	0	0.014758	0	0
CRHBP	1393	broad.mit.edu	37	5	76249022	76249022	+	Silent	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:76249022G>A	ENST00000274368.4	+	1	485	c.63G>A	c.(61-63)ggG>ggA	p.G21G	CRHBP_ENST00000506501.1_Silent_p.G21G	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	21					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CTCTAAGAGGGGAAAGCCGGT	0.597000													8	21					0	0	0.038147	0	0
FLG	2312	broad.mit.edu	37	1	152284876	152284876	+	Missense_Mutation	SNP	G	G	T	rs139207952	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:152284876G>T	ENST00000368799.1	-	3	2521	c.2486C>A	c.(2485-2487)tCc>tAc	p.S829Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	829	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGAGTTGTCTCG	0.572000									Ichthyosis				276	294					1.77019e-86	3.34498e-86	0.048971	1	0
ADIPOR2	79602	broad.mit.edu	37	12	1863667	1863667	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:1863667C>G	ENST00000357103.4	+	2	409	c.158C>G	c.(157-159)tCc>tGc	p.S53C		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	53					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTCTATCTTCCCATCATAAA	0.433000													12	39					0	0	0.093190	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159951	132159951	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:132159951T>C	ENST00000378679.3	-	7	2206	c.1402A>G	c.(1402-1404)Agc>Ggc	p.S468G	SHROOM1_ENST00000319854.3_Missense_Mutation_p.S468G|SHROOM1_ENST00000378676.1_Missense_Mutation_p.S399G	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	468					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGTGTGGCTTGTGGGCCTG	0.567000													18	35					0	0	0.038395	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786488	19786488	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:19786488G>A	ENST00000341998.2	-	1	438	c.377C>T	c.(376-378)tCc>tTc	p.S126F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.S126F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	126					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTCCTCAAGGGAAAAGATGTC	0.438000													29	49					0	0	0.037714	0	0
HOXC11	3227	broad.mit.edu	37	12	54367460	54367460	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:54367460C>A	ENST00000546378.1	+	1	551	c.435C>A	c.(433-435)agC>agA	p.S145R	HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S145R			O43248	HXC11_HUMAN	homeobox C11	145					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						ACAAGAACAGCGTCCTGCCTC	0.667000			T	NUP98	AML								50	126					6.14515e-18	1.00463e-17	0.048971	1	0
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:158605732C>G	ENST00000368148.3	-	38	5583	c.5403G>C	c.(5401-5403)tgG>tgC	p.W1801C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1801C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1801					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522000													108	86					0	0	0.048971	0	0
MS4A6A	64231	broad.mit.edu	37	11	59939710	59939710	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:59939710G>T	ENST00000323961.3	-	7	905	c.668C>A	c.(667-669)cCt>cAt	p.P223H	MS4A6A_ENST00000529054.1_Missense_Mutation_p.P251H|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P223H|MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR	NM_152851.2	NP_690590.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	223						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTAACTGTGAGGCAGGAAAAG	0.338000													54	100					2.48254e-18	4.08147e-18	0.048971	1	0
VCAN	1462	broad.mit.edu	37	5	82835845	82835845	+	Silent	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:82835845A>T	ENST00000265077.3	+	8	7588	c.7023A>T	c.(7021-7023)gcA>gcT	p.A2341A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.A1354A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2341	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACACTGGAGCAGAAGGACCCA	0.468000													21	69					0	0	0.055883	0	0
EVC2	132884	broad.mit.edu	37	4	5570366	5570366	+	Splice_Site	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:5570366T>A	ENST00000310917.2	-	20	3853	c.3120_splice	c.e20-1	p.E1041_splice	EVC2_ENST00000344408.5_Splice_Site_p.E1121_splice|EVC2_ENST00000344938.1_Splice_Site_p.E1121_splice	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1121						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTCTCAGCTCCTACAGGAA	0.562000													7	9					0	0	0.029380	0	0
CACNA1F	778	broad.mit.edu	37	X	49066115	49066115	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:49066115C>A	ENST00000376265.2	-	41	4889	c.4828G>T	c.(4828-4830)Gcc>Tcc	p.A1610S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1599S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1545S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1610					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGCTAGGGGCGGCGTCGTTG	0.582000													12	7					7.03913e-09	8.82925e-09	0.093190	1	0
FNDC3B	64778	broad.mit.edu	37	3	172058969	172058969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:172058969G>T	ENST00000336824.4	+	17	2018	c.1919G>T	c.(1918-1920)gGc>gTc	p.G640V	FNDC3B_ENST00000416957.1_Missense_Mutation_p.G640V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.G640V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	640	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTGAAACCAGGCACTTTGTAC	0.468000													46	118					5.34276e-22	9.36591e-22	0.048971	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481682	140481682	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140481682C>A	ENST00000231130.2	+	1	1449	c.1449C>A	c.(1447-1449)aaC>aaA	p.N483K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		483	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCACCAACGCCCAGGTAA	0.632000													65	188					9.68594e-22	1.68779e-21	0.048971	1	0
NUP188	23511	broad.mit.edu	37	9	131747255	131747255	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:131747255A>T	ENST00000372577.2	+	20	2059	c.2038A>T	c.(2038-2040)Act>Tct	p.T680S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	680					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTATGGGGTTACTATTGCCTT	0.468000											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	72					0	0	0.069288	0	0
VN1R1	57191	broad.mit.edu	37	19	57967672	57967672	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:57967672C>A	ENST00000321039.3	-	1	182	c.183G>T	c.(181-183)ctG>ctT	p.L61L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	61					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGGAATTTCCCAGGATCCCAA	0.408000													25	43					4.59853e-10	6.16669e-10	0.108266	1	0
BRD2	6046	broad.mit.edu	37	6	32943871	32943871	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:32943871T>G	ENST00000395289.2	+	5	2136	c.535T>G	c.(535-537)Tca>Gca	p.S179A	BRD2_ENST00000374831.4_Missense_Mutation_p.S179A|BRD2_ENST00000395287.1_Missense_Mutation_p.S179A|BRD2_ENST00000374825.4_Missense_Mutation_p.S179A|BRD2_ENST00000443797.2_Missense_Mutation_p.S59A|BRD2_ENST00000449085.2_Missense_Mutation_p.S132A			P25440	BRD2_HUMAN	bromodomain containing 2	179					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GAAGGTTGCATCAATGCCACA	0.438000													20	43					0	0	0.043863	0	0
MUC17	140453	broad.mit.edu	37	7	100680018	100680018	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:100680018T>C	ENST00000306151.4	+	3	5385	c.5321T>C	c.(5320-5322)aTt>aCt	p.I1774T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1774	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACTCCTATTGACACCAGC	0.498000													155	384					0	0	0.048971	0	0
OR2M5	127059	broad.mit.edu	37	1	248308584	248308584	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:248308584G>C	ENST00000366476.1	+	1	135	c.135G>C	c.(133-135)atG>atC	p.M45I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGTCATGGTTCTCCTCA	0.527000													96	223					0	0	0.048971	0	0
PRMT5	10419	broad.mit.edu	37	14	23393546	23393546	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:23393546C>G	ENST00000324366.8	-	11	1355	c.1132G>C	c.(1132-1134)Gca>Cca	p.A378P	PRMT5_ENST00000397441.2_Missense_Mutation_p.A361P|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.A317P|PRMT5_ENST00000553897.1_Missense_Mutation_p.A334P|PRMT5_ENST00000538452.1_Missense_Mutation_p.A272P|PRMT5_ENST00000397440.4_Missense_Mutation_p.A207P|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	378					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTTGGCTGCCCGCAGGGAA	0.552000													30	63					0	0	0.041601	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:140209817C>A	ENST00000529310.1	+	1	2255	c.2141C>A	c.(2140-2142)aCg>aAg	p.T714K	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706000													28	96					1.16021e-09	1.52081e-09	0.034045	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131959	91131959	+	Silent	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:91131959T>C	ENST00000373094.1	+	2	1565	c.720T>C	c.(718-720)acT>acC	p.T240T	PCDH11X_ENST00000373097.1_Silent_p.T240T|PCDH11X_ENST00000395337.2_Silent_p.T240T|PCDH11X_ENST00000373088.1_Silent_p.T240T|PCDH11X_ENST00000361655.2_Silent_p.T240T|PCDH11X_ENST00000361724.1_Silent_p.T240T|PCDH11X_ENST00000504220.1_Silent_p.T240T|PCDH11X_ENST00000298274.8_Silent_p.T240T|PCDH11X_ENST00000406881.1_Silent_p.T240T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	240	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGAGTGTTACTGATACAAATG	0.428000													57	51					0	0	0.048971	0	0
SPICE1	152185	broad.mit.edu	37	3	113212121	113212121	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:113212121C>A	ENST00000295872.4	-	6	683	c.424G>T	c.(424-426)Ggt>Tgt	p.G142C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	142					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ACAATGGGACCCTGAGAGGAA	0.398000													16	27					7.07596e-05	7.712e-05	0.038395	1	0
KDM6A	7403	broad.mit.edu	37	X	44918511	44918511	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:44918511A>T	ENST00000377967.4	+	12	1035	c.994A>T	c.(994-996)Aat>Tat	p.N332Y	KDM6A_ENST00000536777.1_Missense_Mutation_p.N332Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N332Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.N332Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	332					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCAGCAGCAAAATCAGCCCAT	0.398000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								13	8					0	0	0.020292	0	0
REST	5978	broad.mit.edu	37	4	57798155	57798155	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:57798155G>A	ENST00000309042.7	+	4	3445	c.3131G>A	c.(3130-3132)aGa>aAa	p.R1044K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1044	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAATCTAGCAGAAAAAATGCA	0.443000													4	60					0	0	0.014758	0	0
POLG2	11232	broad.mit.edu	37	17	62479064	62479064	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr17:62479064C>T	ENST00000539111.2	-	6	1230	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	388					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GGGGCCTCTTCCTACATCCAA	0.408000													22	48					0	0	0.108266	0	0
TRMT1L	81627	broad.mit.edu	37	1	185109211	185109211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:185109211C>A	ENST00000367504.3	-	8	1274	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	TRMT1L_ENST00000367506.5_Nonsense_Mutation_p.E335*			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	335						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCACTCTTTTCCTTTTCCTTA	0.343000													24	117					1.85244e-09	2.40652e-09	0.083992	1	0
SGCZ	137868	broad.mit.edu	37	8	14095116	14095116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:14095116C>A	ENST00000382080.1	-	4	1124	c.409G>T	c.(409-411)Gga>Tga	p.G137*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.G90*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	124					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G137R(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCAGCTGTCCGGTTAACTGC	0.403000													94	264					9.04842e-37	1.65603e-36	0.048971	1	0
SLC10A6	345274	broad.mit.edu	37	4	87770045	87770045	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:87770045T>A	ENST00000273905.6	-	1	371	c.224A>T	c.(223-225)cAg>cTg	p.Q75L	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	75						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GAGCCCAAACTGGCAGAGCAG	0.552000													16	38					0	0	0.028581	0	0
ESRP2	80004	broad.mit.edu	37	16	68264348	68264348	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:68264348C>G	ENST00000473183.2	-	14	2546	c.2008G>C	c.(2008-2010)Ggt>Cgt	p.G670R	ESRP2_ENST00000565858.1_Missense_Mutation_p.G680R			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	680					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TATGGGACACCCTGCATGCGG	0.632000													25	67					0	0	0.083992	0	0
MYT1	4661	broad.mit.edu	37	20	62839248	62839248	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr20:62839248G>T	ENST00000536311.1	+	7	1063	c.699G>T	c.(697-699)caG>caT	p.Q233H	MYT1_ENST00000328439.1_Missense_Mutation_p.Q233H|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	233	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCGCTCCCAGGACCTGTGTC	0.627000													7	35					0.00307968	0.00315559	0.038147	1	0
MUC17	140453	broad.mit.edu	37	7	100677722	100677722	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:100677722G>T	ENST00000306151.4	+	3	3089	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1009	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACTCCAACAC	0.522000													90	833					1.41219e-46	2.65127e-46	0.048971	1	0
OR52E2	119678	broad.mit.edu	37	11	5080461	5080461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:5080461G>A	ENST00000321522.2	-	1	396	c.397C>T	c.(397-399)Caa>Taa	p.Q133*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCGCTATATTGGAGTGGATTG	0.433000													9	35					0	0	0.058154	0	0
SYNE2	23224	broad.mit.edu	37	14	64678779	64678779	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:64678779C>T	ENST00000357395.3	+	105	19123	c.7979C>T	c.(7978-7980)tCa>tTa	p.S2660L	SYNE2_ENST00000554584.1_Missense_Mutation_p.S6234L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2660L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6275L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6275L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2909L|SYNE2_ENST00000555022.1_Missense_Mutation_p.S153L|SYNE2_ENST00000554805.1_Missense_Mutation_p.S58L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6275					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCACTTCTCAGAGAGTGAC	0.547000													18	106					0	0	0.038395	0	0
CRB2	286204	broad.mit.edu	37	9	126132529	126132529	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr9:126132529C>A	ENST00000373631.3	+	7	1198	c.1197C>A	c.(1195-1197)ggC>ggA	p.G399G	CRB2_ENST00000359999.3_Silent_p.G399G|CRB2_ENST00000373629.2_Silent_p.G67G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	399	EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCTCACTGGCTGCCAGGGCC	0.642000													18	29					2.94398e-08	3.61476e-08	0.043863	1	0
CTHRC1	115908	broad.mit.edu	37	8	104388119	104388119	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:104388119T>C	ENST00000330295.5	+	2	446	c.304T>C	c.(304-306)Tgg>Cgg	p.W102R	CTHRC1_ENST00000415886.2_Missense_Mutation_p.W102R|CTHRC1_ENST00000520337.1_Missense_Mutation_p.W88R	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	102						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGAGGAGTCCTGGACACCCAA	0.463000													14	29					0	0	0.020292	0	0
LPHN3	23284	broad.mit.edu	37	4	62599194	62599194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:62599194G>T	ENST00000512091.1	+	7	1864	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	LPHN3_ENST00000507625.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D373Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	373	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAACCCCAGGGACAACCTACT	0.398000													9	20					0.000274275	0.000290233	0.047766	1	0
CXorf22	170063	broad.mit.edu	37	X	35966464	35966464	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:35966464C>A	ENST00000297866.5	+	4	617	c.551C>A	c.(550-552)cCc>cAc	p.P184H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	184										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGCCAATTACCCATCCTCATT	0.403000													44	25					2.68985e-26	4.83177e-26	0.048971	1	0
DYRK3	8444	broad.mit.edu	37	1	206820932	206820932	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:206820932A>G	ENST00000367106.1	+	4	802	c.329A>G	c.(328-330)aAc>aGc	p.N110S	DYRK3_ENST00000367109.2_Missense_Mutation_p.N130S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.N110S			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	130					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTAAAATCCAACAGTTCATCC	0.418000													30	155					0	0	0.030593	0	0
MTMR8	55613	broad.mit.edu	37	X	63445215	63445215	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:63445215C>T	ENST00000453546.1	-	10	1530	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	ASB12_ENST00000362002.2_Missense_Mutation_p.A106T|ASB12_ENST00000396130.2_Missense_Mutation_p.A97T			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGCGTCTGTGCCTTGACATCC	0.527000													3	10					0	0	0.004672	0	0
COLEC11	78989	broad.mit.edu	37	2	3652050	3652050	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:3652050T>A	ENST00000236693.7	+	2	266	c.32T>A	c.(31-33)cTg>cAg	p.L11Q	COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Silent_p.P40P|COLEC11_ENST00000382062.2_Silent_p.P40P|COLEC11_ENST00000418971.2_Silent_p.P54P	NM_199235.2	NP_954705.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	0						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCCTCGTCCCTGGCCTCAAAG	0.627000													19	74					0	0	0.043863	0	0
SCN5A	6331	broad.mit.edu	37	3	38628930	38628930	+	Silent	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:38628930G>T	ENST00000413689.1	-	15	2590	c.2397C>A	c.(2395-2397)tcC>tcA	p.S799S	SCN5A_ENST00000443581.1_Silent_p.S799S|SCN5A_ENST00000423572.2_Silent_p.S799S|SCN5A_ENST00000414099.2_Silent_p.S799S|SCN5A_ENST00000451551.2_Silent_p.S799S|SCN5A_ENST00000333535.4_Silent_p.S799S|SCN5A_ENST00000450102.2_Silent_p.S799S|SCN5A_ENST00000449557.2_Silent_p.S799S|SCN5A_ENST00000455624.2_Silent_p.S799S|SCN5A_ENST00000425664.1_Silent_p.S799S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	799					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCTCATGCGGGACAGGCCCA	0.597000													6	29					0.00116845	0.00122308	0.021553	1	0
COCH	1690	broad.mit.edu	37	14	31346907	31346907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr14:31346907C>A	ENST00000396618.3	+	4	268	c.212C>A	c.(211-213)tCg>tAg	p.S71*	COCH_ENST00000475087.1_Nonsense_Mutation_p.S71*|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Nonsense_Mutation_p.S71*	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	71	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GCTTCTGTATCGAGCATATGT	0.502000													12	34					1.49906e-05	1.67779e-05	0.020292	1	0
LRTM2	654429	broad.mit.edu	37	12	1940197	1940197	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:1940197G>T	ENST00000543818.1	+	4	1006	c.164G>T	c.(163-165)aGt>aTt	p.S55I	LRTM2_ENST00000299194.1_Missense_Mutation_p.S55I|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S55I	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	55	LRRNT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTGGACTGCAGTGGCCTTGGC	0.632000													19	67					3.62473e-10	4.88332e-10	0.062417	1	0
SAMSN1	64092	broad.mit.edu	37	21	15858294	15858294	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr21:15858294A>T	ENST00000285670.2	-	9	1439	c.1265T>A	c.(1264-1266)cTg>cAg	p.L422Q	SAMSN1_ENST00000400566.1_Missense_Mutation_p.L354Q|SAMSN1_ENST00000400564.1_Missense_Mutation_p.L186Q	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	354					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTCAGACTCCAGATCCTCTTT	0.403000													37	83					0	0	0.039052	0	0
SCYL2	55681	broad.mit.edu	37	12	100729587	100729587	+	Splice_Site	SNP	A	A	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:100729587A>G	ENST00000360820.2	+	16	2366		c.e16-1			NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)						endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTCTATTTCAGCAAATTGAC	0.328000													31	65					0	0	0.050027	0	0
ANAPC1	64682	broad.mit.edu	37	2	112540063	112540063	+	Silent	SNP	C	C	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:112540063C>A	ENST00000341068.3	-	43	5857	c.5085G>T	c.(5083-5085)ggG>ggT	p.G1695G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1695					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CATATAAAACCCCATCCTTGG	0.423000													6	37					0.00448238	0.00456074	0.047766	1	0
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr11:15260573G>T	ENST00000379554.3	+	11	1533	c.1487G>T	c.(1486-1488)cGt>cTt	p.R496L	INSC_ENST00000530161.1_Missense_Mutation_p.R449L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.R449L|INSC_ENST00000525218.1_Missense_Mutation_p.R407L|INSC_ENST00000528567.1_Missense_Mutation_p.R449L|INSC_ENST00000424273.1_Missense_Mutation_p.R407L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607000													7	32					0.000157383	0.000169624	0.038147	1	0
CDCA2	157313	broad.mit.edu	37	8	25364831	25364831	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:25364831G>T	ENST00000330560.3	+	15	3126	c.2649G>T	c.(2647-2649)agG>agT	p.R883S	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R868S	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	883					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCTTTCAGAGGAGAAATAGTG	0.423000													27	75					1.2476e-16	1.98389e-16	0.030593	1	0
PDCD7	10081	broad.mit.edu	37	15	65411761	65411761	+	Missense_Mutation	SNP	C	C	A	rs145137866	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:65411761C>A	ENST00000204549.4	-	4	1341	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	429					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGAGATAATACTGTCGGAAAG	0.488000													9	25					3.09899e-07	3.66587e-07	0.047766	1	0
PSG6	5675	broad.mit.edu	37	19	43414784	43414784	+	Silent	SNP	T	T	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:43414784T>A	ENST00000187910.2	-	3	719	c.654A>T	c.(652-654)atA>atT	p.I218I	PSG6_ENST00000402603.4_Silent_p.I218I|PSG6_ENST00000292125.2_Silent_p.I218I	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CTGGGTTCCGTATTTCACATT	0.502000													127	267					0	0	0.048971	0	0
BTBD11	121551	broad.mit.edu	37	12	108011167	108011167	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:108011167C>G	ENST00000280758.5	+	9	2713	c.2185C>G	c.(2185-2187)Cag>Gag	p.Q729E	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.Q729E|BTBD11_ENST00000357167.4_Missense_Mutation_p.Q266E|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	729						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TACAACCCCCCAGGGTGATAT	0.522000													24	70					0	0	0.069288	0	0
ZIC1	7545	broad.mit.edu	37	3	147128353	147128353	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr3:147128353G>T	ENST00000282928.4	+	1	1183	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	152					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGGCTGCCGGCCACGCGTC	0.716000													6	18					4.096e-09	5.22779e-09	0.021553	1	0
ZNF98	148198	broad.mit.edu	37	19	22605004	22605004	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:22605004A>T	ENST00000357774.5	-	1	144	c.23T>A	c.(22-24)cTa>cAa	p.L8Q	ZNF98_ENST00000601553.1_Missense_Mutation_p.L8Q	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACCATTTCTAGGCTTCCAAG	0.612000													45	76					0	0	0.045515	0	0
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr7:123593796G>A	ENST00000340011.5	+	3	529	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SPAM1_ENST00000223028.7_Missense_Mutation_p.E58K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E58K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E58K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E58K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	58					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGCCCCAAGTGAATTTTGTCT	0.448000													8	30					0	0	0.038147	0	0
ASH1L	55870	broad.mit.edu	37	1	155451804	155451804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr1:155451804delT	ENST00000368346.3	-	3	1496	c.857delA	c.(856-858)gtfs	p.D286fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.D286fs|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	286					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)			TTTCCCAGGATCTTTAGTTAC	0.403													101	96	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218682911	218682936	+	Frame_Shift_Del	DEL	CCCCAGGGTGCCGGCCCAGGCTGGGA	CCCCAGGGTGCCGGCCCAGGCTGGGA	-	rs140195511	byFrequency	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr2:218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA	ENST00000171887.4	-	24	4259_4284	c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG	c.(3805-3834)agctfs	p.SPSLGRHPGA1269fs	TNS1_ENST00000430930.1_Frame_Shift_Del_p.SPSLGRHPGA1248fs|TNS1_ENST00000419504.1_Frame_Shift_Del_p.SPSLGRHPGA1256fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1269						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.H1275Q(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTGGTGAGCCCCAGGGTGCCGGCCCAGGCTGGGACTCCCCGGGG	0.673													10	31	---	---	---	---					
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr4:3430399delA	ENST00000336727.3	+	16	4430	c.3526delA	c.(3526-3528)aafs	p.K1178fs	RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000538395.1_Intron	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1178						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328													15	36	---	---	---	---					
DTWD2	285605	broad.mit.edu	37	5	118183864	118183864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr5:118183864delG	ENST00000304058.4	-	5	519	c.449delC	c.(448-450)cgfs	p.P150fs	DTWD2_ENST00000515439.3_Frame_Shift_Del_p.P120fs|DTWD2_ENST00000510708.1_Frame_Shift_Del_p.P216fs			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	216										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TCTATTAGTCGGCTGCATCCG	0.318													17	80	---	---	---	---					
SEC63	11231	broad.mit.edu	37	6	108193003	108193003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr6:108193003delC	ENST00000369002.4	-	21	2367	c.2188delG	c.(2188-2190)atfs	p.D730fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	730					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATTGCTGTATCCCACTGTGGG	0.433													55	106	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													2	4	---	---	---	---					
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)gac>g	p.GD32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739													6	3	---	---	---	---					
RNF6	6049	broad.mit.edu	37	13	26788700	26788700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr13:26788700delC	ENST00000381588.4	-	5	2071	c.1319delG	c.(1318-1320)gcfs	p.G440fs	RNF6_ENST00000346166.3_Frame_Shift_Del_p.G440fs|RNF6_ENST00000399762.2_Frame_Shift_Del_p.G84fs|RNF6_ENST00000381570.3_Frame_Shift_Del_p.G440fs|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	440					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCGGCGAAAGCCCCCACTATT	0.433													31	94	---	---	---	---					
AKAP13	11214	broad.mit.edu	37	15	86236596	86236597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr15:86236596_86236597insT	ENST00000394518.2	+	17	5473_5474	c.5378_5379insT	c.(5377-5379)attfs	p.I1793fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.I1797fs|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.I38fs|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1793					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACGGGCACACTTTCAGTTCCA	0.416													47	119	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													4	5	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													2	4	---	---	---	---					
PSG5	5673	broad.mit.edu	37	19	43689239	43689239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chr19:43689239delG	ENST00000404580.1	-	2	213	c.125delC	c.(124-126)cafs	p.P43fs	PSG5_ENST00000342951.6_Frame_Shift_Del_p.P43fs|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000366175.3_Frame_Shift_Del_p.P43fs|PSG5_ENST00000407356.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000599812.1_Frame_Shift_Del_p.P43fs			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	43	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AACTTTGGGTGGCAGGGCTTC	0.473													72	191	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47028743	47028744	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7166-01A-12D-2063-08	TCGA-78-7166-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17c52748-ff25-4df2-a02e-2dafe57bba78	7c79723d-3ea4-4e5e-b682-5f7672f45f73	g.chrX:47028743_47028744insT	ENST00000377604.3	+	3	789_790	c.47_48insT	c.(46-48)tggfs	p.W16fs	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.W16fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.W16fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	16					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTGGCCGCTATGGAGCCACTG	0.584													16	21	---	---	---	---					
