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
GRM1	2911	broad.mit.edu	37	6	146625950	146625950	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:146625950T>C	ENST00000392299.2	+	4	1624	c.1154T>C	c.(1153-1155)cTg>cCg	p.L385P	GRM1_ENST00000282753.1_Missense_Mutation_p.L385P|GRM1_ENST00000507907.1_Missense_Mutation_p.L385P|GRM1_ENST00000355289.4_Missense_Mutation_p.L385P|GRM1_ENST00000492807.2_Missense_Mutation_p.L385P|GRM1_ENST00000361719.2_Missense_Mutation_p.L385P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	385					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGACACCTTCTGGAAAATCCC	0.443000													18	37					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	66					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582010	84582010	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:84582010G>A	ENST00000286744.5	+	16	2091	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E623K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	623	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCCTCCTGGAAGCATGTGA	0.612000													18	26					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846265	78846265	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:78846265T>C	ENST00000286627.5	-	11	2373	c.1421A>G	c.(1420-1422)cAt>cGt	p.H474R	KCNMA1_ENST00000404857.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.H474R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.H474R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.H474R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.H474R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	474	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGCAAGATCATGTGGATTGAG	0.502000													8	21					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128409254	128409254	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:128409254A>G	ENST00000544369.1	+	4	1640	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.K343K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Silent_p.K343K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	343						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCTGTGGCAAAAGGCTCAAGG	0.632000													16	88					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741308	37741308	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr21:37741308C>G	ENST00000400485.1	+	15	1718	c.1642C>G	c.(1642-1644)Cgt>Ggt	p.R548G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	548					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ACTTTCTACTCGTTCCTCAAT	0.299000													6	22					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987372	61987372	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:61987372G>A	ENST00000450719.3	-	3	576	c.339C>T	c.(337-339)ggC>ggT	p.G113G	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Silent_p.G124G|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GTAGAGAAAGGCCTGGAGGAT	0.527000													27	83					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338496	13338496	+	RNA	SNP	A	A	G	rs11931734	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:13338496A>G	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						GCAATTTGGTATTGGCTTTTA	0.453000													4	67					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819495	31819495	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:31819495G>C	ENST00000382902.1	-	5	761	c.669C>G	c.(667-669)caC>caG	p.H223Q	OTUD7A_ENST00000307050.4_Missense_Mutation_p.H223Q			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	223	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGTCCCGGTCGTGAAACCCCC	0.577000													17	93					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56763010	56763010	+	Missense_Mutation	SNP	G	G	T	rs142941850	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:56763010G>T	ENST00000381295.2	+	16	2429	c.2081G>T	c.(2080-2082)cGt>cTt	p.R694L	EXOC1_ENST00000349598.6_Missense_Mutation_p.R679L|EXOC1_ENST00000346134.7_Missense_Mutation_p.R694L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	694					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AATGCTGAGCGTCGTGGAGAC	0.338000													14	49					6.31663e-08	7.34226e-08	1	1	0
MUSK	4593	broad.mit.edu	37	9	113562629	113562629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:113562629C>A	ENST00000416899.2	+	13	2073	c.1947C>A	c.(1945-1947)taC>taA	p.Y649*	MUSK_ENST00000374448.4_Nonsense_Mutation_p.Y657*|MUSK_ENST00000189978.5_Nonsense_Mutation_p.Y657*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	657	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTTTGAATACATGGCCTATG	0.507000													28	44					7.38237e-10	9.17203e-10	1	1	0
PTDSS1	9791	broad.mit.edu	37	8	97321822	97321822	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:97321822C>T	ENST00000517309.1	+	9	1371	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	PTDSS1_ENST00000522072.1_Missense_Mutation_p.R146C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.R203C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	349					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACAGTGCAAGCGCGTAGGAAC	0.423000													5	51					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45277359	45277359	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:45277359C>G	ENST00000020926.3	-	2	378	c.267G>C	c.(265-267)gtG>gtC	p.V89V		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	89						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGGAGCCGTCACAGCTGGCC	0.547000													25	31					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685492	248685492	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:248685492C>T	ENST00000343414.4	+	1	577	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGAGGTGCCAGTGCTCATC	0.512000													21	42					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605505	159605505	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:159605505G>C	ENST00000337808.6	+	5	1582	c.1005G>C	c.(1003-1005)caG>caC	p.Q335H	IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.Q411H|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.Q295H|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.Q103H|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.Q322H|SCHIP1_ENST00000482804.1_Missense_Mutation_p.Q108H|SCHIP1_ENST00000445224.2_Missense_Mutation_p.Q92H|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.Q384H	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		335						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGAGCAAACAGAGTTCTTCCT	0.468000													68	149					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133846193	133846193	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:133846193C>G	ENST00000355167.3	+	19	2237	c.1779C>G	c.(1777-1779)ggC>ggG	p.G593G	EYA4_ENST00000430974.2_Silent_p.G545G|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Silent_p.G570G|EYA4_ENST00000452339.2_Silent_p.G539G|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Silent_p.G593G	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	593					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGATTTGGCACTAACATAA	0.413000													23	66					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94964203	94964203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:94964203G>T	ENST00000370214.4	+	17	1456	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Nonsense_Mutation_p.G405*|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.G368*|ABCD3_ENST00000454898.2_Nonsense_Mutation_p.G502*	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	478	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAATGGCTGCGGAAAGAGTTC	0.343000													13	41					1.5842e-08	1.89014e-08	1	1	0
TP53	7157	broad.mit.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7577081T>A	ENST00000420246.2	-	8	989	c.857A>T	c.(856-858)gAa>gTa	p.E286V	TP53_ENST00000269305.4_Missense_Mutation_p.E286V|TP53_ENST00000445888.2_Missense_Mutation_p.E286V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286V|TP53_ENST00000455263.2_Missense_Mutation_p.E286V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGATTCTCTTCCTCTGTGCG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	27					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46205167	46205167	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:46205167G>A	ENST00000012049.5	+	6	1219	c.998G>A	c.(997-999)cGc>cAc	p.R333H	QPCTL_ENST00000366382.4_Missense_Mutation_p.R239H	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	333					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCCTTCCTCCGCAGAGGTACC	0.592000													13	16					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915618	119915618	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:119915618G>A	ENST00000331113.4	+	1	1897	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	311					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAAGGCCTGCGCATCCTGGGG	0.507000													13	46					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551061	248551061	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:248551061T>C	ENST00000355728.2	+	1	152	c.152T>C	c.(151-153)aTa>aCa	p.I51T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGATTAACATAGACCCTCAT	0.458000													18	57					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327510	21327510	+	Splice_Site	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:21327510G>C	ENST00000256958.2	+	4	322		c.e4-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCCCTTTCTAGGAAATTTGCT	0.363000													20	33					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533290	94533290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:94533290G>T	ENST00000433060.2	+	3	1075	c.934G>T	c.(934-936)Gag>Tag	p.E312*	AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.E312*|AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.E262*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	312						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCCTCCACCTGAGTACCCCTT	0.602000													48	54					1.41504e-22	2.01956e-22	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1902706	1902706	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1902706G>T	ENST00000503128.1	+	2	532	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	WHSC1_ENST00000508803.1_Missense_Mutation_p.G109W|WHSC1_ENST00000420906.2_Missense_Mutation_p.G109W|WHSC1_ENST00000382891.5_Missense_Mutation_p.G109W|WHSC1_ENST00000382892.2_Missense_Mutation_p.G109W|WHSC1_ENST00000382895.3_Missense_Mutation_p.G109W|WHSC1_ENST00000398261.1_Missense_Mutation_p.G109W|WHSC1_ENST00000436793.1_Missense_Mutation_p.G109W|WHSC1_ENST00000514045.1_Missense_Mutation_p.G109W			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	109					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAAGGGATTGGGACACCCCC	0.463000			T	IGH@	MM								18	54					1.67942e-08	1.9932e-08	1	1	0
GBA3	57733	broad.mit.edu	37	4	22729367	22729367	+	RNA	SNP	C	C	T	rs11544900		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:22729367C>T	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATAACTCAGCGGTCGTAATC	0.393000													46	136					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958692	111958692	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:111958692A>G	ENST00000305815.5	-	12	1693	c.1441T>C	c.(1441-1443)Tac>Cac	p.Y481H	SLC9C1_ENST00000487372.1_Missense_Mutation_p.Y433H	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	481					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTTACCATGTATGGGTTTTCA	0.308000													11	33					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70026595	70026595	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70026595G>T	ENST00000395889.2	-	10	852	c.697C>A	c.(697-699)Cag>Aag	p.Q233K	TEX11_ENST00000374333.2_Missense_Mutation_p.Q218K|TEX11_ENST00000344304.3_Missense_Mutation_p.Q233K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	233							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTATTCTTCTGGGTTTCTACT	0.303000													3	7					0.004672	0.00481067	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152551704	152551704	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:152551704T>G	ENST00000367255.5	-	115	21774	c.21173A>C	c.(21172-21174)cAa>cCa	p.Q7058P	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q7058P|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1582P|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6670P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7058					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTGCATTTTGAACAGAAGC	0.383000										HNSCC(10;0.0054)			60	106					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56310806	56310806	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:56310806A>T	ENST00000468660.1	+	6	1247	c.959A>T	c.(958-960)gAg>gTg	p.E320V	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CGCTCAGATGAGCTCACTCGC	0.498000													4	4					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593338	102593338	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:102593338T>C	ENST00000236826.3	-	2	267	c.169A>G	c.(169-171)Aat>Gat	p.N57D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	57					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACGATCACATTAGTGCCATTC	0.433000													24	63					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149447814	149447814	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:149447814A>G	ENST00000258484.6	+	2	219	c.185A>G	c.(184-186)cAg>cGg	p.Q62R	EPC2_ENST00000409654.1_Missense_Mutation_p.Q62R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	62					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTCAGCACAGCAAGTGTTT	0.333000													23	54					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5776299	5776299	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:5776299A>G	ENST00000381624.3	+	21	2130	c.2069A>G	c.(2068-2070)tAc>tGc	p.Y690C	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	690						integral to membrane											TATGTCTTCTACATTTCGATC	0.577000													10	21					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69184563	69184563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:69184563G>A	ENST00000344157.4	-	13	2037	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.R550*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R568*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	568	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCTGGTATCGTGGATCCTTT	0.328000													8	92					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12867030	12867030	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:12867030G>A	ENST00000549706.1	+	9	1348	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	BEST2_ENST00000042931.1_Missense_Mutation_p.E342K|BEST2_ENST00000553030.1_Missense_Mutation_p.E342K			Q8NFU1	BEST2_HUMAN	bestrophin 2	342					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GGATGCAGCCGAGGCTCGCGC	0.592000													24	117					0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39565022	39565022	+	RNA	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:39565022G>A	ENST00000432258.1	+	0	436				AC003958.2_ENST00000430006.1_RNA																							AGCTGTTGCAGCGAGCGCTCT	0.602000													4	6					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652822	24652822	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:24652822G>A	ENST00000354464.6	-	20	2213	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	679					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCTCCCCCACGGCAGCACAGG	0.577000													5	25					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078011	90078011	+	RNA	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:90078011A>G	ENST00000390270.2	+	0	146																											TTCCAATCTCAGATACCACCG	0.448000													22	70					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	T	A	rs13566		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110																											GCGGGATAGCTCGGTGGAGAG	0.612000													4	46					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237923109	237923109	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:237923109G>T	ENST00000366574.2	+	83	11676	c.11359G>T	c.(11359-11361)Gtg>Ttg	p.V3787L	RYR2_ENST00000360064.6_Missense_Mutation_p.V3793L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3771L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3787					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)			GAAAAAGGATGTGGGCTTCTT	0.413000													17	70					9.16793e-09	1.09675e-08	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38678848	38678848	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:38678848G>T	ENST00000267377.2	+	3	871	c.254G>T	c.(253-255)cGc>cTc	p.R85L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	85					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGATCCTGCGCTATGCCAAG	0.562000													27	58					4.22769e-11	5.37096e-11	1	1	0
BCAS1	8537	broad.mit.edu	37	20	52612559	52612559	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:52612559G>T	ENST00000395961.3	-	5	920	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	BCAS1_ENST00000371440.3_Missense_Mutation_p.Q252K|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q252K|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	252						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAAGTTCTTGTCCTTCTTTT	0.473000													23	48					5.35356e-11	6.76318e-11	1	1	0
NRK	203447	broad.mit.edu	37	X	105168850	105168850	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:105168850G>T	ENST00000428173.2	+	19	3445	c.3142G>T	c.(3142-3144)Gca>Tca	p.A1048S	NRK_ENST00000243300.9_Missense_Mutation_p.A1047S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1047							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGAACATGCAGCCAATAT	0.517000										HNSCC(51;0.14)			15	16					3.27435e-08	3.83567e-08	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96237044	96237044	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:96237044C>T	ENST00000347108.3	-	20	2902	c.2470G>A	c.(2470-2472)Gct>Act	p.A824T	DZIP1_ENST00000376829.2_Missense_Mutation_p.A824T|DZIP1_ENST00000361156.3_Missense_Mutation_p.A805T|DZIP1_ENST00000361396.2_Missense_Mutation_p.A805T			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	824					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGCACATGAGCAAAATGTGGT	0.438000													18	34					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117629982	117629982	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:117629982G>A	ENST00000368508.3	-	41	6742	c.6544C>T	c.(6544-6546)Cca>Tca	p.P2182S	ROS1_ENST00000368507.3_Missense_Mutation_p.P2176S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2182	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTCTTGGTGGCTCCAGTCTC	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								15	48					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540554	31540554	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:31540554T>G	ENST00000454783.1	+	2	293	c.35T>G	c.(34-36)gTg>gGg	p.V12G	LTA_ENST00000418386.2_Missense_Mutation_p.V12G	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	12					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTCCCAAGGGTGTGTGGCACC	0.647000													16	51					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26873050	26873050	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:26873050C>A	ENST00000398145.2	-	4	801	c.185G>T	c.(184-186)cGc>cTc	p.R62L	HPS4_ENST00000398141.1_Missense_Mutation_p.R57L|HPS4_ENST00000402105.3_Missense_Mutation_p.R57L|HPS4_ENST00000336873.5_Missense_Mutation_p.R62L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	62					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGAAACACAGCGGACAACTCC	0.443000									Hermansky-Pudlak syndrome				10	40					1.58986e-06	1.77044e-06	1	1	0
NUF2	83540	broad.mit.edu	37	1	163317627	163317627	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338000													10	39					0	0	1	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212015	90212015	+	RNA	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:90212015G>T	ENST00000390277.2	+	0	204																											TTGTCTCCAGGGGAAAGAGCC	0.502000													25	79					4.26978e-12	5.56552e-12	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125593009	125593009	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:125593009T>G	ENST00000504087.1	-	4	2460	c.1423A>C	c.(1423-1425)Atg>Ctg	p.M475L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M296L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	475										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCCATATCATCCACAGAGCT	0.413000													30	111					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18079810	18079810	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:18079810A>T	ENST00000539092.1	+	5	945	c.254A>T	c.(253-255)gAg>gTg	p.E85V	NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000535084.1_Missense_Mutation_p.E85V|NAT1_ENST00000520546.1_Missense_Mutation_p.E85V|NAT1_ENST00000518029.1_Missense_Mutation_p.E85V|NAT1_ENST00000307719.4_Missense_Mutation_p.E85V|NAT1_ENST00000541942.1_Missense_Mutation_p.E85V|NAT1_ENST00000545197.1_Missense_Mutation_p.E147V|NAT1_ENST00000517492.1_Missense_Mutation_p.E85V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	85					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATTGGTTTTGAGACCACGATG	0.473000													46	76					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13247186	13247186	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:13247186G>T	ENST00000292431.4	+	3	1213	c.1087G>T	c.(1087-1089)Ggc>Tgc	p.G363C		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	363					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CTACGACGAGGGCGACCCCTC	0.652000													9	42					7.48243e-07	8.45758e-07	1	1	0
CFH	3075	broad.mit.edu	37	1	196697650	196697650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:196697650C>A	ENST00000367429.4	+	15	2651	c.2411C>A	c.(2410-2412)tCa>tAa	p.S804*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	804	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGAACTGCTCAAGTAAGCTC	0.318000													15	53					4.7546e-09	5.7182e-09	1	1	0
HTT	3064	broad.mit.edu	37	4	3182271	3182271	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:3182271G>A	ENST00000355072.5	+	36	4787	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1548					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.D1548N(2)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATAGTCCACGACCTCTTTGT	0.443000													20	59					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104184091	104184091	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:104184091C>T	ENST00000374855.4	-	9	1219	c.1095G>A	c.(1093-1095)taG>taA	p.*365*		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	0					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCATTGGACCCTAGTAGGTAT	0.527000													7	7					0	0	1	0	0
TPMT	7172	broad.mit.edu	37	6	18148147	18148147	+	Splice_Site	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:18148147C>G	ENST00000309983.4	-	3	226		c.e3-1			NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase						xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	CTTTAATAGCCTGAAGAGGAA	0.353000													19	72					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327096	57327096	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:57327096T>A	ENST00000326441.9	-	10	3077	c.2714A>T	c.(2713-2715)cAg>cTg	p.Q905L	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q781L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q905L|PEG3_ENST00000593695.1_Missense_Mutation_p.Q779L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	905					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACACTTTTCTGAGGTTTGGC	0.478000													27	79					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53035751	53035751	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:53035751C>T	ENST00000378037.5	+	4	883	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	CKAP2_ENST00000490903.1_Missense_Mutation_p.R216W|CKAP2_ENST00000378034.3_Missense_Mutation_p.R264W|CKAP2_ENST00000258607.5_Missense_Mutation_p.R264W	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	265					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAGTAATACCCGGGACACTGT	0.408000													25	34					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107876	26107876	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26107876G>T	ENST00000338379.4	-	1	488	c.446C>A	c.(445-447)aCc>aAc	p.T149N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	149					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TCTCTTATTGGTTTTAGCAGT	0.468000													33	88					2.61193e-14	3.52689e-14	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48119591	48119591	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:48119591C>A	ENST00000311303.3	-	27	4086	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1247	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1247H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGACTTCTGCCTGTAATTTTT	0.403000													21	31					2.39556e-15	3.30397e-15	1	1	0
NBEA	26960	broad.mit.edu	37	13	35632986	35632986	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:35632986G>C	ENST00000400445.3	+	8	1759	c.1225G>C	c.(1225-1227)Gga>Cga	p.G409R	NBEA_ENST00000379939.2_Missense_Mutation_p.G409R|NBEA_ENST00000310336.4_Missense_Mutation_p.G409R|NBEA_ENST00000540320.1_Missense_Mutation_p.G409R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	409						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCATCAGTTAGGACCTGGATA	0.343000													3	7					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656161	40656161	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:40656161C>G	ENST00000406785.1	-	2	1449	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D	SLC8A1_ENST00000542024.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E420D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E420D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E420D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	420	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TACCACAGTTCTCCAGACACT	0.463000													17	66					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31496420	31496420	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:31496420C>G	ENST00000357033.4	-	59	8946	c.8740G>C	c.(8740-8742)Gag>Cag	p.E2914Q	DMD_ENST00000359836.1_Missense_Mutation_p.E454Q|DMD_ENST00000378707.3_Missense_Mutation_p.E454Q|DMD_ENST00000541735.1_Missense_Mutation_p.E454Q|DMD_ENST00000474231.1_Missense_Mutation_p.E454Q|DMD_ENST00000343523.2_Missense_Mutation_p.E454Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2910Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2914					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTCCCACTCAGTATTGACC	0.498000													24	20					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452000	26452000	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26452000A>T	ENST00000244519.2	+	11	1359	c.1116A>T	c.(1114-1116)ccA>ccT	p.P372P	BTN3A3_ENST00000339789.4_Silent_p.P330P|BTN3A3_ENST00000361232.3_Silent_p.P323P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	372	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGATCTGCCAGACAACCCTG	0.537000													23	58					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542336	40542336	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:40542336T>C	ENST00000434248.1	-	5	495	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATAGCTGATGATCTTCTGG	0.373000													13	31					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119261	133119261	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:133119261G>T	ENST00000302334.2	+	1	423	c.334G>T	c.(334-336)Ggg>Tgg	p.G112W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	112	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGAGGACCTAGGGGGCTGCCT	0.607000													14	45					1.05317e-09	1.30489e-09	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234444975	234444975	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:234444975C>A	ENST00000366618.3	+	4	882	c.737C>A	c.(736-738)aCt>aAt	p.T246N	SLC35F3_ENST00000366617.3_Missense_Mutation_p.T177N	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	177					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAAATAAACACTACGGATGTC	0.438000													20	61					4.35082e-09	5.27478e-09	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126723963	126723963	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:126723963C>T	ENST00000393409.2	+	6	1774	c.1774C>T	c.(1774-1776)Ctc>Ttc	p.L592F	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L569F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	592					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGTGCCTGACCTCTCAGCTGG	0.657000													4	27					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213545	3213545	+	RNA	SNP	G	G	C	rs8071097	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:3213545G>C	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ACCTCATCCTGCTTCTGCCAC	0.498000													3	26					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709164	176709164	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176709164C>G	ENST00000367662.3	+	14	5147	c.3983C>G	c.(3982-3984)aCc>aGc	p.T1328S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1328					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCAATGTGACCCATCACCAG	0.463000													29	82					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865920	139865920	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:139865920C>T	ENST00000370532.2	-	1	803	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	204	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAATCCAGGTCTTCCAGCCAA	0.448000													78	58					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857816	9857816	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:9857816G>T	ENST00000396573.2	-	14	3894	c.3585C>A	c.(3583-3585)gaC>gaA	p.D1195E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1195E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1038E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1195E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1195					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAACCCTTGTCTTTCAAGG	0.532000													78	211					6.09464e-36	8.80987e-36	1	1	0
CAAP1	79886	broad.mit.edu	37	9	26861107	26861107	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:26861107G>A	ENST00000333916.5	-	5	784	c.696C>T	c.(694-696)tcC>tcT	p.S232S	CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Silent_p.S87S	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	232																	TCTCTCTCACGGATGAAGCAG	0.323000													27	51					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21595659	21595659	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:21595659G>T	ENST00000244745.1	+	1	1688	c.894G>T	c.(892-894)ctG>ctT	p.L298L	SOX4_ENST00000543472.1_Silent_p.L298L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	298					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCGTCTACCTGTTCGGCGGCC	0.766000													2	2					6.4e-05	6.80755e-05	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112920103	112920103	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:112920103C>T	ENST00000161863.4	+	26	3965	c.3752C>T	c.(3751-3753)tCt>tTt	p.S1251F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1251	Ser-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCAGATCAGTCTTCTCTGAAA	0.428000													28	53					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233273006	233273006	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:233273006G>T	ENST00000295453.3	+	6	730	c.678G>T	c.(676-678)atG>atT	p.M226I		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	226					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GAAAGTACATGTTTCCCATGG	0.617000													15	69					2.31682e-05	2.49376e-05	1	1	0
UBR5	51366	broad.mit.edu	37	8	103326146	103326146	+	Splice_Site	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:103326146T>C	ENST00000520539.1	-	16	2501		c.e16-2		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGTCGTTCTTAGACAACAA	0.363000													24	64					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23640992	23640992	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:23640992C>A	ENST00000261584.4	-	5	2635	c.2483G>T	c.(2482-2484)tGc>tTc	p.C828F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	828					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCTCCTGGCATGTGTTTCT	0.438000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					11	56					0.010729	0.0109475	1	1	0
RNF220	55182	broad.mit.edu	37	1	44878355	44878355	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:44878355C>T	ENST00000355387.2	+	2	1036	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	RNF220_ENST00000361799.2_Missense_Mutation_p.R196W|RNF220_ENST00000372247.2_Missense_Mutation_p.R196W			Q5VTB9	RN220_HUMAN	ring finger protein 220	196					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CATTTCTGATCGGGAAGCCTC	0.512000													22	60					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443014	4443014	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:4443014G>C	ENST00000254718.4	-	26	3989	c.3683C>G	c.(3682-3684)cCa>cGa	p.P1228R	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1228R			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1228	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTTGGTGGTTGGCGTCCCGTT	0.652000													20	58					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32643427	32643427	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:32643427G>T	ENST00000266086.4	-	5	459	c.448C>A	c.(448-450)Ctc>Atc	p.L150I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	150					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGATGAAGAGGGAGAGGATG	0.498000													6	30					8.12818e-05	8.62544e-05	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228855881	228855881	+	Silent	SNP	A	A	T	rs137978320	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228855881A>T	ENST00000392056.3	-	11	4840	c.4794T>A	c.(4792-4794)ccT>ccA	p.P1598P	SPHKAP_ENST00000344657.5_Silent_p.P1569P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1598						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTTCCCGTAGGCGGTCCAG	0.562000													20	53					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153914360	153914360	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:153914360C>G	ENST00000361217.4	-	6	1458	c.1040G>C	c.(1039-1041)cGc>cCc	p.R347P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	347	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGTAGGCGGTGGGGGCC	0.632000													10	29					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927486	6927486	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:6927486C>G	ENST00000293805.5	+	3	356	c.264C>G	c.(262-264)ggC>ggG	p.G88G	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	88	BTB.					nucleus	zinc ion binding			skin(1)	1						AAGCGAGAGGCTTCGCCCCTC	0.612000													41	75					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169330	138169330	+	Silent	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:138169330A>C	ENST00000409968.1	+	14	3025	c.2847A>C	c.(2845-2847)ggA>ggC	p.G949G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G918G|THSD7B_ENST00000272643.3_Silent_p.G949G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCACCGAGGACTGCGGGTAC	0.483000													30	76					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354181	103354181	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:103354181G>T	ENST00000358392.2	-	62	4913	c.4596C>A	c.(4594-4596)ccC>ccA	p.P1532P	COL11A1_ENST00000353414.4_Silent_p.P1481P|COL11A1_ENST00000512756.1_Silent_p.P1404P|COL11A1_ENST00000370096.3_Silent_p.P1520P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1520	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTGGCCAGCGGGTCCCTGTT	0.418000													9	47					1.49906e-05	1.63699e-05	1	1	0
FGA	2243	broad.mit.edu	37	4	155507623	155507623	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:155507623T>C	ENST00000302053.3	-	5	1036	c.958A>G	c.(958-960)Acc>Gcc	p.T320A	FGA_ENST00000403106.3_Missense_Mutation_p.T320A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	320					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTTTCCAGGTTGCAGTCCCT	0.572000													36	114					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256715	113256715	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113256715G>A	ENST00000297405.5	-	65	10554	c.10310C>T	c.(10309-10311)aCc>aTc	p.T3437I	CSMD3_ENST00000455883.2_Missense_Mutation_p.T3268I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3367I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3397I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGCTGACAGGTATAAATCAG	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	63					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072306	134072306	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:134072306C>A	ENST00000264360.4	+	1	1837	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	337	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCCAACGCCGTGCCTGCGC	0.607000													25	96					1.85244e-09	2.25798e-09	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20177327	20177327	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:20177327G>A	ENST00000245957.5	+	16	1780	c.1704G>A	c.(1702-1704)cgG>cgA	p.R568R	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	568										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCATTTTCCGGCACTACACCA	0.468000													31	37					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87056134	87056134	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:87056134A>T	ENST00000265723.4	-	16	2107	c.1996T>A	c.(1996-1998)Tct>Act	p.S666T	ABCB4_ENST00000545634.1_Missense_Mutation_p.S666T|ABCB4_ENST00000359206.3_Missense_Mutation_p.S666T|ABCB4_ENST00000358400.3_Missense_Mutation_p.S666T|ABCB4_ENST00000453593.1_Missense_Mutation_p.S666T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	666					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCTGAGTAGAATGCCTAAAT	0.383000													16	48					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695581	45695581	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:45695581G>C	ENST00000305560.6	+	1	1053	c.954G>C	c.(952-954)gaG>gaC	p.E318D	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E318D	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	318						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GAGCACCCGAGAGCCGCGTAG	0.697000													17	17					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290738	102290738	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:102290738C>A	ENST00000370103.4	-	4	649	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	OLFM3_ENST00000338858.5_Missense_Mutation_p.D166Y|OLFM3_ENST00000359814.3_Missense_Mutation_p.D166Y|OLFM3_ENST00000536598.1_Missense_Mutation_p.D71Y|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	166						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AACTTAGCATCTGTTTTGTAC	0.448000													5	30					0.217242	0.217725	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62442586	62442586	+	Splice_Site	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:62442586C>A	ENST00000281156.4	-	7	1172		c.e7+1			NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAATGCCTTACCTTTGTGTTT	0.373000													16	49					1.15088e-07	1.31737e-07	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54785330	54785330	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:54785330T>C	ENST00000218436.6	-	8	1206	c.1177A>G	c.(1177-1179)Atc>Gtc	p.I393V		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	393	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTCAGGAAGATGATAAGAGGG	0.612000													6	6					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36545898	36545898	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:36545898A>T	ENST00000273183.3	+	7	1080	c.780A>T	c.(778-780)ccA>ccT	p.P260P	STAC_ENST00000457375.2_Silent_p.P199P|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	260					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTACATATCCAGAAAATGGCA	0.373000													7	38					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799682	31799682	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:31799682C>A	ENST00000438447.1	+	2	715	c.327C>A	c.(325-327)caC>caA	p.H109Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.H109Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	109	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAAACCCACCAGGGTCCTG	0.587000													17	63					4.7546e-09	5.7182e-09	1	1	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													4	52					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671756	176671756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176671756G>T	ENST00000367662.3	+	9	4414	c.3250G>T	c.(3250-3252)Gga>Tga	p.G1084*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1084					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCACACCTGGACAGATGTA	0.502000													10	32					0.00621372	0.00638357	1	1	0
HECTD2	143279	broad.mit.edu	37	10	93221100	93221100	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:93221100A>T	ENST00000446394.1	+	4	597	c.497A>T	c.(496-498)aAt>aTt	p.N166I	HECTD2_ENST00000371681.4_Missense_Mutation_p.N166I|HECTD2_ENST00000298068.5_Missense_Mutation_p.N166I			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	166					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAGAATTAAATGCTGCATTT	0.274000													37	93					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646302	57646302	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:57646302C>A	ENST00000269834.1	-	5	1788	c.1403G>T	c.(1402-1404)aGa>aTa	p.R468I		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R468I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGTGAATTCTTTTCTGGTG	0.423000													15	74					3.27435e-08	3.83567e-08	1	1	0
IL12RB2	3595	broad.mit.edu	37	1	67861294	67861294	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:67861294C>A	ENST00000262345.1	+	16	2751	c.2111C>A	c.(2110-2112)cCg>cAg	p.P704Q	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618Q|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	704					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GATCCTGAACCGCTGGTCATC	0.542000													15	50					2.31682e-05	2.49376e-05	1	1	0
BACH2	60468	broad.mit.edu	37	6	90660481	90660481	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:90660481A>G	ENST00000257749.4	-	7	2051	c.1344T>C	c.(1342-1344)taT>taC	p.Y448Y	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.Y448Y|BACH2_ENST00000343122.3_Silent_p.Y448Y|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	448						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCACCCCAGAATAAGAATGCA	0.607000													19	55					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7955363	7955363	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:7955363T>A	ENST00000332175.8	+	7	2120	c.1083T>A	c.(1081-1083)ggT>ggA	p.G361G	PTPRM_ENST00000400060.4_Silent_p.G361G|PTPRM_ENST00000400053.4_Silent_p.G299G|PTPRM_ENST00000444013.1_Silent_p.G148G|PTPRM_ENST00000580170.1_Silent_p.G361G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	361	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGGGGAGGGTGGCACTGGCT	0.498000													22	21					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891793	5891793	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:5891793C>G	ENST00000581347.1	-	3	915	c.270G>C	c.(268-270)ccG>ccC	p.P90P	TMEM200C_ENST00000383490.2_Silent_p.P90P|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	90						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGCCCGCAGGCGGCAGCTGCT	0.672000													20	20					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121500720	121500720	+	Splice_Site	SNP	G	G	A	rs138646990		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:121500720G>A	ENST00000310864.6	-	13	1494	c.1278_splice	c.e13-1	p.A427_splice	IQCB1_ENST00000349820.6_Splice_Site_p.A294_splice	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	427	IQ 4.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GAATTTAAGCGCCTGGAAGAA	0.388000													19	49					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32519917	32519917	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:32519917C>A	ENST00000357033.4	-	19	2541	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	DMD_ENST00000378677.2_Missense_Mutation_p.D775Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	779					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCTGGCATCTTGCAGTTTT	0.413000													8	6					0.000274275	0.00028767	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36128345	36128345	+	Splice_Site	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:36128345G>A	ENST00000258840.6	-	28	4399	c.4010_splice	c.e28+1	p.R1337_splice	RALGAPA1_ENST00000382366.3_Splice_Site_p.R1303_splice|RALGAPA1_ENST00000307138.6_Splice_Site_p.R1290_splice|RALGAPA1_ENST00000389698.3_Splice_Site_p.R1290_splice			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1290	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGACCTACCGTGCAGGACCA	0.373000													15	31					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64415348	64415348	+	Silent	SNP	C	C	G	rs150729144		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:64415348C>G	ENST00000395251.1	+	4	682	c.348C>G	c.(346-348)tcC>tcG	p.S116S	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	116										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGGTCTCTCCGAGCTCATCA	0.502000													18	50					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764098	77764098	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:77764098G>A	ENST00000521891.2	+	10	5389	c.4941G>A	c.(4939-4941)caG>caA	p.Q1647Q	ZFHX4_ENST00000518282.1_Silent_p.Q1621Q|ZFHX4_ENST00000455469.2_Silent_p.Q1602Q|ZFHX4_ENST00000050961.6_Silent_p.Q1602Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1602	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCCTGGCCAGGGGATGTTAG	0.473000										HNSCC(33;0.089)			15	65					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88189924	88189924	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:88189924A>C	ENST00000309495.5	+	1	1671	c.1464A>C	c.(1462-1464)gaA>gaC	p.E488D	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGACAAGTGAACATACTTCAT	0.413000													17	90					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114179511	114179511	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:114179511T>C	ENST00000357077.4	+	13	1383	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	ANK2_ENST00000264366.6_Silent_p.L444L|ANK2_ENST00000394537.3_Silent_p.L444L|ANK2_ENST00000506722.1_Silent_p.L423L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	444					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGGCCACTTGAACATTGT	0.532000													33	69					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125871614	125871614	+	Splice_Site	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:125871614C>T	ENST00000392693.3	-	11	2285	c.2158_splice	c.e11+1	p.V720_splice	CDON_ENST00000531738.1_Splice_Site_p.V97_splice|CDON_ENST00000263577.7_Splice_Site_p.V720_splice	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	720					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCTTTTTACCTCCACTGTGC	0.408000													18	32					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733570	126733570	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:126733570G>A	ENST00000393409.2	+	13	2773	c.2773G>A	c.(2773-2775)Ggg>Agg	p.G925R	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G902R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	925	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGAGATCGGGGACGCCAG	0.701000													5	12					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49936579	49936579	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:49936579G>C	ENST00000257981.6	+	4	796	c.536G>C	c.(535-537)gGg>gCg	p.G179A	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	179					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCTGTCCGGGCACCTGCAG	0.652000													3	2					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117251690	117251690	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:117251690T>A	ENST00000003084.6	+	20	3327	c.3195T>A	c.(3193-3195)ctT>ctA	p.L1065L	CFTR_ENST00000454343.1_Silent_p.L1004L|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1065	ABC transmembrane type-1 2.		L -> P (in CF).|L -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATGGACACTTCGTGCCTTCG	0.413000									Cystic Fibrosis				11	28					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41801279	41801279	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:41801279C>A	ENST00000263800.6	-	8	1142	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V	LTK_ENST00000453182.2_Missense_Mutation_p.G288V|LTK_ENST00000355166.5_Missense_Mutation_p.G288V|LTK_ENST00000561619.1_Missense_Mutation_p.G31V	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	349					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAAGGATACTCCATCTTCCCC	0.577000										TSP Lung(18;0.14)			6	39					3.59834e-05	3.86393e-05	1	1	0
KY	339855	broad.mit.edu	37	3	134348510	134348510	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:134348510G>A	ENST00000508956.1	-	3	284	c.227C>T	c.(226-228)cCt>cTt	p.P76L	KY_ENST00000503669.1_Missense_Mutation_p.P97L|KY_ENST00000423778.2_Missense_Mutation_p.P97L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	97						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCATCTCGAGGGTGGACTTC	0.507000													3	3					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651359	78651359	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:78651359G>A	ENST00000286627.5	-	25	4044	c.3092C>T	c.(3091-3093)cCg>cTg	p.P1031L	KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1072L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1092L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1058L|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1089L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1031L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1093L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1089L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1089					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGTGTCTGCGGGGTGCTGTA	0.627000													11	41					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195351	18195351	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:18195351G>C	ENST00000314254.3	+	1	968	c.548G>C	c.(547-549)tGg>tCg	p.W183S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	183						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGTCGCGTGGCTGATTTTT	0.512000													40	63					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55446005	55446005	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:55446005G>T	ENST00000446217.1	-	9	2809	c.2407C>A	c.(2407-2409)Ccg>Acg	p.P803T	NLRP7_ENST00000328092.5_Missense_Mutation_p.P747T|NLRP7_ENST00000340844.2_Missense_Mutation_p.P775T|NLRP7_ENST00000592784.1_Missense_Mutation_p.P775T|NLRP7_ENST00000590030.1_Missense_Mutation_p.P775T|NLRP7_ENST00000588756.1_Missense_Mutation_p.P775T|NLRP7_ENST00000448121.2_Missense_Mutation_p.P747T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	775							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CACTGCTCCGGGGTGGCACAG	0.502000													10	24					0.00829132	0.0084986	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58639938	58639938	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:58639938C>G	ENST00000598312.1	-	4	1166	c.933G>C	c.(931-933)ggG>ggC	p.G311G	ZNF329_ENST00000358067.4_Silent_p.G311G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATGGTTTTTCCCCTGTATGAG	0.433000													25	88					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118705	34118705	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:34118705C>A	ENST00000297161.2	+	13	1689	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	BMPER_ENST00000426693.1_Missense_Mutation_p.R439S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	439	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.R439C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCTCACCGTGCGCTGGAACGG	0.662000													21	67					5.35356e-11	6.76318e-11	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19480697	19480697	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:19480697C>A	ENST00000270570.4	+	17	1630	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACAGGCGAGCCTCAGTCAGAT	0.498000													25	63					7.87624e-14	1.05406e-13	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162841715	162841715	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:162841715G>T	ENST00000306100.5	-	4	686	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	FSTL5_ENST00000536695.1_Missense_Mutation_p.Q83K|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q83K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q83K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	84	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCTGCTTGCCCTGTCTCT	0.443000													13	35					2.61681e-11	3.33385e-11	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25940061	25940061	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:25940061C>A	ENST00000356865.6	-	14	3104	c.2993G>T	c.(2992-2994)tGc>tTc	p.C998F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	998					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACGGAGCGGCACTGCTTGGC	0.607000													29	29					3.73148e-12	4.87796e-12	1	1	0
RYR3	6263	broad.mit.edu	37	15	33855069	33855069	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:33855069A>T	ENST00000389232.4	+	11	1074	c.1004A>T	c.(1003-1005)aAg>aTg	p.K335M	RYR3_ENST00000415757.3_Missense_Mutation_p.K335M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	335					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)		TCCAGTCACAAGCGAGACATA	0.403000													24	35					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833232	160833232	+	Splice_Site	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:160833232C>T	ENST00000283243.7	-	16	2608		c.e16-1		PLA2R1_ENST00000392771.1_Splice_Site	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa						endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTTCACATCTGCAAAGTGA	0.358000													14	31					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234732	21234732	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:21234732C>A	ENST00000233242.1	-	26	5135	c.5008G>T	c.(5008-5010)Gag>Tag	p.E1670*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1670				E -> D (in Ref. 8; AAA51752).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCATTCAGCTCATTCTCCAGC	0.473000													23	73					1.50039e-11	1.93336e-11	1	1	0
AGAP3	116988	broad.mit.edu	37	7	150814821	150814821	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:150814821C>T	ENST00000397238.2	+	5	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000335367.3_Silent_p.F401F|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000479901.1_Silent_p.F221F|AGAP3_ENST00000473312.1_Silent_p.F221F	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	185	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTGCAGCTTCCGCAACGCCA	0.602000													24	70					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97402775	97402775	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:97402775C>A	ENST00000371224.2	-	3	414	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G93W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	93	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GCCAAGCGCCCCAGGGCCAGG	0.507000													12	36					1.08611e-07	1.24958e-07	1	1	0
DDX20	11218	broad.mit.edu	37	1	112305593	112305593	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:112305593G>C	ENST00000475700.1	+	2	2458	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P	DDX20_ENST00000369702.4_Missense_Mutation_p.A426P|DDX20_ENST00000536167.1_3'UTR			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	426					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGAATTGCCCAGAAATG	0.353000													11	43					0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67201122	67201122	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:67201122G>A	ENST00000264009.8	+	9	1691	c.726G>A	c.(724-726)caG>caA	p.Q242Q	HSF4_ENST00000521374.1_Silent_p.Q242Q|HSF4_ENST00000421453.1_Silent_p.Q242Q|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Silent_p.Q242Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	242					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACTTCATCCAGTCGGTAGGTT	0.567000													18	35					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86351946	86351946	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:86351946G>T	ENST00000285381.2	+	2	123	c.40G>T	c.(40-42)Gac>Tac	p.D14Y		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	14					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTAGGTCCTGACCACTGGCA	0.473000													4	50					0.014758	0.0150245	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803491	185803491	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:185803491A>C	ENST00000302277.6	+	4	3962	c.3368A>C	c.(3367-3369)aAa>aCa	p.K1123T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1123						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gGAACCTTTAAAGTGCTTCAG	0.517000													30	68					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869162	36869162	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:36869162A>G	ENST00000279024.4	-	3	1642	c.1371T>C	c.(1369-1371)ccT>ccC	p.P457P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	457										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTTTCTGCTAGGGCAGGGCA	0.572000													24	56					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83767585	83767585	+	Silent	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:83767585T>G	ENST00000369747.3	-	2	356	c.234A>C	c.(232-234)ggA>ggC	p.G78G		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	78						cytoplasm	ligase activity										GCAGGTGCAGTCCATCTCCAA	0.463000											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	29					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519826	69519826	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:69519826G>A	ENST00000338206.5	-	5	1251	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	414					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGTCCACACTGAGGGCTGCTC	0.468000													56	167					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176004720	176004720	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:176004720C>A	ENST00000510636.1	+	14	1707	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	CDHR2_ENST00000506348.1_Missense_Mutation_p.P478H|CDHR2_ENST00000261944.5_Missense_Mutation_p.P478H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	478	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCACAGGCCCACGTTTCCC	0.602000													13	15					4.3838e-07	4.99266e-07	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906463	164906463	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:164906463C>A	ENST00000475390.1	-	2	2599	c.2156G>T	c.(2155-2157)aGt>aTt	p.S719I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S719I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	719	Poly-Gly.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						accacccccacttccgccacc	0.577000										HNSCC(40;0.11)			22	31					3.62473e-10	4.5284e-10	1	1	0
IFT140	9742	broad.mit.edu	37	16	1570757	1570757	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:1570757T>C	ENST00000426508.2	-	27	3869	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	IFT140_ENST00000361339.5_Missense_Mutation_p.E363G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1169										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCGCCATCTCCTCGGTGAT	0.632000													6	11					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183479353	183479353	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:183479353A>T	ENST00000305135.5	+	14	1910	c.1715A>T	c.(1714-1716)aAg>aTg	p.K572M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGTCACCCTAAGGTTCAAAGC	0.413000													38	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588653	179588653	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:179588653C>T	ENST00000589042.1	-	73	21557	c.21333G>A	c.(21331-21333)atG>atA	p.M7111I	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M5867I|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M6794I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6794	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAATTGCCCATATCTGAGG	0.423000													21	63					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255493	70255493	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:70255493G>C	ENST00000342771.4	+	19	3612	c.3291G>C	c.(3289-3291)agG>agC	p.R1097S	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1073S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1097										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCCTGCTAAGGAACGACCCGC	0.637000													5	5					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56901748	56901748	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:56901748T>C	ENST00000301310.4	-	3	290	c.132A>G	c.(130-132)tcA>tcG	p.S44S	ZNF582_ENST00000586929.1_Silent_p.S44S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCTTACCCAGTGAGACCAGGT	0.488000													38	73					0	0	1	0	0
IMPA1	3612	broad.mit.edu	37	8	82591364	82591364	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:82591364T>C	ENST00000256108.5	-	4	764	c.299A>G	c.(298-300)cAt>cGt	p.H100R	IMPA1_ENST00000311489.4_Missense_Mutation_p.H100R|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.H159R	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	100					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	AACATACCTATGTACAAAGTT	0.338000													22	32					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675542	176675542	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176675542G>C	ENST00000367662.3	+	10	4577	c.3413G>C	c.(3412-3414)gGc>gCc	p.G1138A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1138					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCGGAGATGGCTGCTCCAAG	0.403000													4	26					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765575	61765575	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:61765575C>T	ENST00000423902.2	+	31	6770	c.6291C>T	c.(6289-6291)gaC>gaT	p.D2097D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2097					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GACGGCATGACCGAGACTTGC	0.547000													25	41					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94773979	94773979	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:94773979A>G	ENST00000371552.4	+	20	2138	c.2109A>G	c.(2107-2109)ggA>ggG	p.G703G	EXOC6_ENST00000371547.4_Silent_p.G724G|EXOC6_ENST00000260762.6_Silent_p.G708G|EXOC6_ENST00000443748.2_Silent_p.G605G	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	708					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTGTGCCAGGATTCCAGGGGG	0.378000													15	39					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79385874	79385874	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:79385874A>T	ENST00000370742.3	-	10	1518	c.1455T>A	c.(1453-1455)acT>acA	p.T485T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	485					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATACCTTATTAGTATTTGTAT	0.313000													12	38					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8477672	8477672	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:8477672C>T	ENST00000389737.4	+	11	2218	c.2218C>T	c.(2218-2220)Cat>Tat	p.H740Y	TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		CCCGTTTGCCCATGGGCCTGC	0.622000													16	103					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76692093	76692093	+	Splice_Site	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:76692093T>G	ENST00000589297.1	-	10	1327		c.e10-2		CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Splice_Site|CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000585509.1_Splice_Site			Q15438	CYH1_HUMAN	cytohesin 1						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ACATACCTCCTGGAGTTTGGG	0.388000													14	20					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082943	11082943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:11082943G>A	ENST00000304623.8	-	16	2842	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R452*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R827*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R548*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R794*|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	885					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACAGCGGCTCGGATATATACT	0.547000													6	49					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893510	50893510	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:50893510T>C	ENST00000380817.2	-	34	4799	c.4616A>G	c.(4615-4617)tAc>tGc	p.Y1539C	SBF1_ENST00000390679.3_Missense_Mutation_p.Y1513C|SBF1_ENST00000348911.6_Missense_Mutation_p.Y1514C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1513	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACATGGTGGTAGCCGAGGAA	0.622000													4	24					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800594	185800594	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:185800594G>T	ENST00000302277.6	+	4	1065	c.471G>T	c.(469-471)gtG>gtT	p.V157V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	157						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTGTTGTGGATTCAGTTA	0.383000													18	45					2.35188e-11	3.02193e-11	1	1	0
QARS	5859	broad.mit.edu	37	3	49137814	49137814	+	Splice_Site	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49137814T>G	ENST00000306125.6	-	12	1391	c.1055_splice	c.e12+1	p.R352_splice	QARS_ENST00000414533.1_Splice_Site_p.R341_splice|QARS_ENST00000470225.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	352					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGGCCTTACCTGCGGATGAGC	0.537000													3	15					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546068	82546068	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:82546068G>T	ENST00000423517.2	-	7	11571	c.11234C>A	c.(11233-11235)aCa>aAa	p.T3745K	PCLO_ENST00000333891.8_Missense_Mutation_p.T3745K|PCLO_ENST00000437081.1_Missense_Mutation_p.T465K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3676					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGGAAACTGTGCCCATTGT	0.478000													18	61					3.41278e-10	4.27546e-10	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83021872	83021872	+	Splice_Site	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:83021872T>G	ENST00000307792.3	-	14	2133	c.1667_splice	c.e14+1	p.R556_splice	SEMA3E_ENST00000427262.1_Splice_Site_p.R496_splice	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	556					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACGTCTCACCTTTTTGCATGT	0.438000													13	41					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129621910	129621910	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:129621910T>A	ENST00000421865.2	+	22	3116	c.3067T>A	c.(3067-3069)Tgt>Agt	p.C1023S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1023	Laminin EGF-like 11.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGGTAATAATTGTGACCCAAA	0.423000													24	55					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80164140	80164140	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:80164140C>A	ENST00000281127.7	+	4	1648	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	NRXN3_ENST00000335750.5_Missense_Mutation_p.L889M|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Missense_Mutation_p.L889M|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.L287M|NRXN3_ENST00000557594.1_Missense_Mutation_p.L257M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	257					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGTGTTCGGCTGGTTGGAGA	0.458000													26	59					6.32553e-13	8.34156e-13	1	1	0
KIF13B	23303	broad.mit.edu	37	8	29006204	29006204	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:29006204G>A	ENST00000524189.1	-	16	1741	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568F	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463000													21	43					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41019000	41019000	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:41019000G>T	ENST00000399564.4	-	25	3012	c.2562C>A	c.(2560-2562)gaC>gaA	p.D854E	MROH2B_ENST00000506092.2_Missense_Mutation_p.D409E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGTGCTCCTTGTCCTTGTCTG	0.498000													8	39					0.000157383	0.000166619	1	1	0
STAG3	10734	broad.mit.edu	37	7	99787212	99787212	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:99787212G>T	ENST00000426455.1	+	8	1267	c.860G>T	c.(859-861)cGc>cTc	p.R287L	STAG3_ENST00000317296.5_Missense_Mutation_p.R287L|STAG3_ENST00000394018.2_Missense_Mutation_p.R229L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	287					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGAGAAACGCAAAGAGGTG	0.547000													24	78					3.08376e-08	3.63127e-08	1	1	0
RIMS3	9783	broad.mit.edu	37	1	41094945	41094945	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:41094945G>C	ENST00000372684.3	-	6	1041	c.572C>G	c.(571-573)cCa>cGa	p.P191R	RIMS3_ENST00000372683.1_Missense_Mutation_p.P191R	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	191	C2.				neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCCCTCACCTGGGAGGGATTT	0.592000													13	53					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210155	100210155	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:100210155G>T	ENST00000317233.4	-	14	2203	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	AFF3_ENST00000409236.1_Missense_Mutation_p.S656R|AFF3_ENST00000356421.2_Missense_Mutation_p.S681R|AFF3_ENST00000409579.1_Missense_Mutation_p.S681R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	656					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGACGATCCTGCTTAGCCCCC	0.617000													25	61					9.57634e-11	1.2064e-10	1	1	0
ZNF440	126070	broad.mit.edu	37	19	11943668	11943668	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:11943668A>G	ENST00000304060.5	+	4	1841	c.1677A>G	c.(1675-1677)gaA>gaG	p.E559E		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACCTTTGAATACGTGGTAG	0.478000													19	44					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49580244	49580244	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:49580244G>T	ENST00000371175.4	-	6	837	c.811C>A	c.(811-813)Cac>Aac	p.H271N	RHAG_ENST00000229810.7_Missense_Mutation_p.H271N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	271					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTCTGAATGTGAACCTGTGTG	0.473000													9	41					0.000442599	0.000463138	1	1	0
EYS	346007	broad.mit.edu	37	6	66200507	66200507	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:66200507T>A	ENST00000503581.1	-	5	1379	c.842A>T	c.(841-843)gAa>gTa	p.E281V	EYS_ENST00000342421.5_Missense_Mutation_p.E281V|EYS_ENST00000393380.2_Missense_Mutation_p.E281V|EYS_ENST00000370616.2_Missense_Mutation_p.E281V|EYS_ENST00000370618.3_Missense_Mutation_p.E281V|EYS_ENST00000370621.3_Missense_Mutation_p.E281V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	281	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCATCACATTCACAAATGAA	0.294000													14	28					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49142161	49142161	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49142161C>G	ENST00000306125.6	-	1	343	c.6G>C	c.(4-6)gcG>gcC	p.A2A	QARS_ENST00000414533.1_Silent_p.A2A|QARS_ENST00000420147.2_Silent_p.A20A			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	2					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTCTAGAGCCGCCATTGCAG	0.612000													5	20					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354182	103354182	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:103354182G>T	ENST00000358392.2	-	62	4912	c.4595C>A	c.(4594-4596)cCc>cAc	p.P1532H	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1481H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1404H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1520H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1520	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCCAGCGGGTCCCTGTTA	0.413000													9	48					1.49906e-05	1.63699e-05	1	1	0
STX4	6810	broad.mit.edu	37	16	31045834	31045834	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:31045834G>T	ENST00000394998.1	+	5	621	c.278G>T	c.(277-279)aGg>aTg	p.R93M	STX4_ENST00000313843.3_Missense_Mutation_p.R95M|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	95					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGCTGGGGAGGGAGATCCGC	0.572000													3	23					0.00024832	0.000261664	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	28807464	28807464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:28807464A>T	ENST00000378993.1	+	2	677	c.4A>T	c.(4-6)Aaa>Taa	p.K2*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.K2*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	2					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGGAAGATGAAAGCTCCGAT	0.348000													23	18					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811780	91811780	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:91811780A>G	ENST00000394232.1	+	9	1788	c.1318A>G	c.(1318-1320)Atc>Gtc	p.I440V	SV2B_ENST00000330276.4_Missense_Mutation_p.I440V|SV2B_ENST00000545111.2_Missense_Mutation_p.I289V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	440					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CGGCGCCACAATCAACTTCAC	0.428000													9	125					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	55					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163027570	163027570	+	Silent	SNP	G	G	A	rs138589105	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:163027570G>A	ENST00000188790.4	-	26	2409	c.2202C>T	c.(2200-2202)caC>caT	p.H734H	FAP_ENST00000443424.1_Silent_p.H709H|AC007750.5_ENST00000418968.2_RNA	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	734					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CGGATAAGCCGTGGTTCTGGT	0.438000													19	56					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752113	21752113	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:21752113G>T	ENST00000382254.1	-	15	3204	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	CDH12_ENST00000522262.1_Silent_p.P666P|CDH12_ENST00000504376.2_Silent_p.P706P|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATCTTCCATGGGTGGTCTCT	0.453000										HNSCC(59;0.17)			20	80					4.72057e-08	5.50124e-08	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74344279	74344279	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:74344279C>A	ENST00000263665.6	-	18	2537	c.2510G>T	c.(2509-2511)gGc>gTc	p.G837V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	837	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTCATAGCCCAGTAAATG	0.398000													9	45					0.00448238	0.00462598	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186672707	186672707	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:186672707C>A	ENST00000343098.5	+	17	18941	c.18941C>A	c.(18940-18942)tCc>tAc	p.S6314Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6225Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAATTTATCTCCAAAAGTAAG	0.308000													12	29					0.000978159	0.00101647	1	1	0
TJP1	7082	broad.mit.edu	37	15	30012801	30012801	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:30012801C>T	ENST00000346128.6	-	19	2998	c.2524G>A	c.(2524-2526)Gac>Aac	p.D842N	TJP1_ENST00000356107.6_Missense_Mutation_p.D842N|TJP1_ENST00000400011.2_Missense_Mutation_p.D846N|TJP1_ENST00000545208.2_Missense_Mutation_p.D842N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	842					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.D842fs*18(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTCATAGTCAGAAGTGTGT	0.463000													40	40					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794728	55794728	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:55794728G>A	ENST00000379665.2	+	1	515	c.416G>A	c.(415-417)tGt>tAt	p.C139Y		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AACAAAGTCTGTAATTGGCTT	0.418000													64	102					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119337960	119337960	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:119337960A>T	ENST00000338891.7	-	5	1925	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	FAM184A_ENST00000368475.4_Silent_p.I374I|FAM184A_ENST00000352896.5_Silent_p.I374I|FAM184A_ENST00000521531.1_Silent_p.I494I|FAM184A_ENST00000522284.1_Silent_p.I374I|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	494										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGACAGCTTCAATTGCCATAT	0.343000													10	58					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977347	29977347	+	RNA	SNP	A	A	T	rs57303436	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29977347A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							CTGAGAGGCAAGATTTGTTCA	0.438000													4	47					0	0	1	0	0
UTP23	84294	broad.mit.edu	37	8	117782554	117782554	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:117782554G>T	ENST00000309822.2	+	2	413	c.312G>T	c.(310-312)ctG>ctT	p.L104L	UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Silent_p.L104L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	104					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CAGAATGTCTGCTTTCCATGG	0.378000													55	61					9.59835e-30	1.38302e-29	1	1	0
KIRREL2	84063	broad.mit.edu	37	19	36351814	36351814	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:36351814G>C	ENST00000360202.5	+	8	1130	c.932G>C	c.(931-933)gGg>gCg	p.G311A	KIRREL2_ENST00000592409.1_Missense_Mutation_p.G311A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G261A|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G311A|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G291A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	311					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTCCAGTTGGGCCGATTCTG	0.652000													11	20					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	32					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46479621	46479621	+	Splice_Site	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:46479621C>A	ENST00000231751.4	-	16	2204		c.e16-1		LTF_ENST00000426532.2_Splice_Site|LTF_ENST00000417439.1_Splice_Site|LTF_ENST00000493056.1_Splice_Site	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin						cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CAAATTTAGCCTGCGACAAAA	0.448000													19	87					1.33834e-09	1.64019e-09	1	1	0
PTGS1	5742	broad.mit.edu	37	9	125145892	125145892	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:125145892G>T	ENST00000362012.2	+	8	872	c.867G>T	c.(865-867)gaG>gaT	p.E289D	PTGS1_ENST00000373698.5_Missense_Mutation_p.E180D|PTGS1_ENST00000223423.4_Missense_Mutation_p.E289D|PTGS1_ENST00000540753.1_Missense_Mutation_p.E264D	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	289					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGGCCAGGAGGTGTTTGGGC	0.622000													17	16					4.7546e-09	5.7182e-09	1	1	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781866	20781866	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:20781866C>G	ENST00000398169.3	-	6	1008	c.392G>C	c.(391-393)aGc>aCc	p.S131T	CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.S131T			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	131						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TACATCCTTGCTTTGTATTTG	0.393000			T	HMGA2	leiomyoma								8	82					0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77003168	77003168	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:77003168T>C	ENST00000355810.4	+	3	380	c.261T>C	c.(259-261)ccT>ccC	p.P87P	ART3_ENST00000349321.3_Silent_p.P87P|ART3_ENST00000341029.5_Silent_p.P87P|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	87					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTTCTCCCTATGAATTTTA	0.423000													23	57					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1918052	1918052	+	Silent	SNP	G	G	T	rs149536101	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:1918052G>T	ENST00000358771.4	+	8	1505	c.1353G>T	c.(1351-1353)acG>acT	p.T451T	SIRPA_ENST00000400068.3_Silent_p.T455T|SIRPA_ENST00000356025.3_Silent_p.T451T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	451					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAACCACACGGAGTATGCCA	0.582000													6	65					0.217242	0.217725	1	1	0
OR12D2	26529	broad.mit.edu	37	6	29364491	29364491	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29364491C>G	ENST00000383555.2	+	1	76	c.15C>G	c.(13-15)acC>acG	p.T5T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGAATACAACCTCAGTCACCG	0.428000													48	154					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123630881	123630881	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:123630881C>T	ENST00000422452.2	-	20	3743	c.3680G>A	c.(3679-3681)aGt>aAt	p.S1227N	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.S1227N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.S1229T(1)									TTCCAAAATACTAACGGAGTT	0.398000													18	30					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692190	54692190	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:54692190C>T	ENST00000245615.1	-	3	567	c.87G>A	c.(85-87)ctG>ctA	p.L29L	MBOAT7_ENST00000338624.6_5'UTR|MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Silent_p.L29L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	29					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCATCTCTTCAGCCCAGGAC	0.642000													10	31					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137308275	137308275	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:137308275T>C	ENST00000424189.2	-	7	1059	c.830A>G	c.(829-831)cAc>cGc	p.H277R	DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.H277R|DGKI_ENST00000446122.1_Missense_Mutation_p.H277R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	277					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCTTTACTGTGGAAGGAGAA	0.443000													41	110					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91528644	91528644	+	Splice_Site	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:91528644A>T	ENST00000416354.1	+	31	5403	c.5332_splice	c.e31+1	p.K1777_splice	KIF20B_ENST00000371728.3_Splice_Site_p.K1747_splice|KIF20B_ENST00000260753.4_Splice_Site_p.K1707_splice|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1747	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTCAATCAAAAGGTTTGCAGA	0.313000													11	41					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162557316	162557316	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:162557316G>A	ENST00000271469.3	+	6	1188	c.886G>A	c.(886-888)Gat>Aat	p.D296N	UAP1_ENST00000367926.4_Missense_Mutation_p.D296N|UAP1_ENST00000367924.1_Missense_Mutation_p.D296N|UAP1_ENST00000367925.1_Missense_Mutation_p.D296N			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	296					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTGCCGAGTGGATGGAGTTTA	0.463000													43	108					0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360768	50360768	+	Missense_Mutation	SNP	G	G	C	rs61755568		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:50360768G>C	ENST00000298316.5	+	2	861	c.314G>C	c.(313-315)cGc>cCc	p.R105P		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	105					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					GAGCTGCACCGCATTATCAAT	0.587000													17	42					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99087858	99087858	+	Silent	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:99087858G>C	ENST00000376586.2	+	19	2508	c.2172G>C	c.(2170-2172)gtG>gtC	p.V724V	FARP1_ENST00000595437.1_Silent_p.V724V|FARP1_ENST00000319562.6_Silent_p.V724V|FARP1-AS1_ENST00000432229.1_RNA			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	724	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGGAGATGGTGGCACAGCTCC	0.517000													16	29					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730926	127730926	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:127730926G>C	ENST00000508053.1	-	15	2094	c.1120C>G	c.(1120-1122)Cgc>Ggc	p.R374G	FBN2_ENST00000508989.1_Missense_Mutation_p.R341G|FBN2_ENST00000262464.4_Missense_Mutation_p.R374G			P35556	FBN2_HUMAN	fibrillin 2	374	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTGCACAGCGGCCATTCACC	0.517000													7	16					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423481	26423481	+	RNA	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26423481G>A	ENST00000466808.2	+	0	400																											CTGCAATGAGGCCATCCTGCA	0.512000													17	34					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935685	30935685	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:30935685C>G	ENST00000355537.3	+	2	1363	c.1216C>G	c.(1216-1218)Ccc>Gcc	p.P406A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P406T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAACAAGTCCCCCAGCGACCC	0.622000													14	36					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54683820	54683820	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:54683820G>A	ENST00000230640.5	+	19	2325	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D590N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	691					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGGTGAACTGGATCCTTTGTA	0.373000													12	52					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931678	102931678	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:102931678T>A	ENST00000423833.2	-	3	1503	c.278A>T	c.(277-279)gAa>gTa	p.E93V	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E93V			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	93					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTGAGGTGCTTCGCTGGTACT	0.542000													47	39					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86210435	86210435	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:86210435T>C	ENST00000370571.2	-	57	4952	c.4586A>G	c.(4585-4587)cAc>cGc	p.H1529R	COL24A1_ENST00000436319.1_Missense_Mutation_p.H1508R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1529	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGATGCTGTGCAATAAATT	0.388000													21	63					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95574699	95574699	+	Silent	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:95574699T>G	ENST00000526495.1	-	17	2689	c.2398A>C	c.(2398-2400)Aga>Cga	p.R800R	DICER1_ENST00000527414.1_Silent_p.R800R|DICER1_ENST00000393063.1_Silent_p.R800R|DICER1_ENST00000541352.1_Silent_p.R800R|DICER1_ENST00000343455.3_Silent_p.R800R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	800					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCAAAGCATCTTGTGGTATCT	0.398000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				48	119					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49933215	49933215	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49933215C>A	ENST00000296474.3	-	12	2922	c.2895G>T	c.(2893-2895)ttG>ttT	p.L965F	MST1R_ENST00000344206.4_Missense_Mutation_p.L916F	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	965					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAGCAGCAGCAAAGGCAGCA	0.582000													3	19					6.4e-05	6.80755e-05	1	1	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333000													3	25					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187155174	187155174	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:187155174C>A	ENST00000264690.6	+	4	477	c.290C>A	c.(289-291)tCt>tAt	p.S97Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.S97Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	97	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTGCAGTTTCTGGACATTCC	0.368000													19	64					7.45023e-12	9.68315e-12	1	1	0
ZNF440	126070	broad.mit.edu	37	19	11943503	11943503	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:11943503C>G	ENST00000304060.5	+	4	1676	c.1512C>G	c.(1510-1512)atC>atG	p.I504M		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTTTGATATCATGAAAGGAC	0.423000													17	40					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3418409	3418409	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:3418409C>G	ENST00000356575.4	-	18	2491	c.2265G>C	c.(2263-2265)acG>acC	p.T755T	MEGF6_ENST00000294599.4_Silent_p.T650T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	755	EGF-like 12.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCACTGCCCCGTGACCCCGT	0.706000													8	16					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3282450	3282450	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:3282450C>A	ENST00000541430.2	+	8	954	c.918C>A	c.(916-918)caC>caA	p.H306Q	CELF5_ENST00000292672.2_Missense_Mutation_p.H331Q|CELF5_ENST00000588101.1_3'UTR	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	331					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CAGGTGGGCACCCTGCCCTGG	0.622000													7	35					0.000274275	0.00028767	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142498885	142498885	+	RNA	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:142498885T>G	ENST00000466254.1	+	0	161																											AGGTGCACAGTGGGGTCAGCA	0.642000													12	87					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136476329	136476329	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:136476329A>C	ENST00000394945.1	-	4	456	c.287T>G	c.(286-288)gTg>gGg	p.V96G	SPOCK1_ENST00000282223.7_Missense_Mutation_p.V96G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	96					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCACACACACTTTGTGAGG	0.612000													4	10					0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71816197	71816197	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:71816197C>G	ENST00000580087.1	+	1	440	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	TIMM21_ENST00000169551.6_Missense_Mutation_p.L52V			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	52					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											AAAGAAAACGCTGCGACCTAG	0.493000													36	82					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578538	24578538	+	Missense_Mutation	SNP	T	T	G	rs16973840		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:24578538T>G	ENST00000319715.4	+	15	2096	c.1664T>G	c.(1663-1665)gTc>gGc	p.V555G	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V555G	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	555			V -> A (in dbSNP:rs16973840).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCAACTCCAGTCTTTGTAcct	0.498000													33	105					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245537	166245537	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:166245537T>A	ENST00000375437.2	+	27	5511	c.5221T>A	c.(5221-5223)Tca>Aca	p.S1741T	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1741T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1741T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1741T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1741					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCTGGAAGCTCAGTTAAAGG	0.458000													57	199					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374606	95374606	+	RNA	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:95374606C>G	ENST00000494840.1	-	0	1255					NR_077228.1																						GTGGAAGGTGCGAGAGCGCGG	0.512000													4	9					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444559	49444559	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:49444559G>T	ENST00000374201.3	-	9	1261	c.959C>A	c.(958-960)gCc>gAc	p.A320D	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A289D|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A296D	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	320					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGTCATCGGGGCCTCTCCAGC	0.567000													14	33					1.3612e-06	1.52333e-06	1	1	0
SLC39A10	57181	broad.mit.edu	37	2	196578254	196578254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196578254G>A	ENST00000409086.3	+	6	1948	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.W558*|SLC39A10_ENST00000541054.1_Nonsense_Mutation_p.W108*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	558					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GATTCTGACTGGCTTCAACTC	0.323000													16	20					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978616	40978616	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:40978616C>T	ENST00000352632.3	+	2	174	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R30W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R30W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	30	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCGGATCGGGGCTGGGA	0.672000													5	16					0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777903	56777903	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:56777903C>T	ENST00000423391.1	-	1	733	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	211						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTTGACATCTCGCACAATCTC	0.552000													26	74					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59331	59331	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:59331A>T	ENST00000509152.2	+	2	197	c.12A>T	c.(10-12)gtA>gtT	p.V4V	ZNF595_ENST00000526473.2_Silent_p.V4V|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGAACTCGTAACATTCAGGG	0.408000													18	438					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304538	54304538	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:54304538C>A	ENST00000324134.6	-	7	2867	c.2699G>T	c.(2698-2700)gGg>gTg	p.G900V	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.G901V|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G900V|NLRP12_ENST00000535162.1_Missense_Mutation_p.G900V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G901V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	900					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGCAGCACCCCGAGGTCCCC	0.622000													10	33					7.48243e-07	8.45758e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55587200	55587200	+	Silent	SNP	C	C	T	rs12246234		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:55587200C>T	ENST00000373965.2	-	33	4735	c.4341G>A	c.(4339-4341)ccG>ccA	p.P1447P	PCDH15_ENST00000395433.1_Silent_p.P1415P|PCDH15_ENST00000361849.3_Silent_p.P1440P|PCDH15_ENST00000414778.1_Silent_p.P1442P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1051P|PCDH15_ENST00000437009.1_Silent_p.P1369P|PCDH15_ENST00000395430.1_Silent_p.P1437P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.P1440P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1440P|PCDH15_ENST00000395445.1_Silent_p.P1447P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1400P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTggcggaggcggcggcggcg	0.572000										HNSCC(58;0.16)			4	75					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225198	26225198	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:26225198G>T	ENST00000056233.3	+	4	2139	c.1880G>T	c.(1879-1881)tGt>tTt	p.C627F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	627	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAAGCACAATGTAACAAAGCT	0.343000													29	74					5.61819e-17	7.86895e-17	1	1	0
HOXD10	3236	broad.mit.edu	37	2	176981826	176981826	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:176981826C>G	ENST00000249501.4	+	1	520	c.265C>G	c.(265-267)Cga>Gga	p.R89G	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	89						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGATCTTGTCGAATAGAGCA	0.433000													32	72					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40277269	40277269	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:40277269G>T	ENST00000309930.5	+	7	565	c.541G>T	c.(541-543)Ggt>Tgt	p.G181C	C7orf10_ENST00000335693.4_Missense_Mutation_p.G181C|C7orf10_ENST00000401647.2_Missense_Mutation_p.G181C	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	181							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TCAGCGAGCTGGTTATGATGC	0.423000													22	54					1.10513e-12	1.45311e-12	1	1	0
NAV3	89795	broad.mit.edu	37	12	78522567	78522567	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:78522567C>T	ENST00000397909.2	+	18	4535	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D	NAV3_ENST00000536525.2_Silent_p.D1454D|NAV3_ENST00000228327.6_Silent_p.D1454D|NAV3_ENST00000266692.7_Silent_p.D1277D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1454	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCTTCAGGACACTGGCAACC	0.463000										HNSCC(70;0.22)			23	40					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183378	197183378	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:197183378C>T	ENST00000260983.2	-	9	2418	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	HECW2_ENST00000409111.1_Missense_Mutation_p.A390T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	746	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCAGCTGCAGCTCCCTCCAGG	0.682000													9	36					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060260	12060260	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:12060260A>T	ENST00000482090.1	+	3	1785	c.1367A>T	c.(1366-1368)tAt>tTt	p.Y456F	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Y474F|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAGAAACCCTATGAATGTAAG	0.433000													13	51					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998530	92998530	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:92998530C>A	ENST00000523629.1	-	9	1555	c.1101G>T	c.(1099-1101)atG>atT	p.M367I	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.M367I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.M378I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.M330I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.M330I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.M330I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	367	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTTTTTCTACCATGTCCATTA	0.438000													49	80					1.42923e-14	1.94151e-14	1	1	0
NCR2	9436	broad.mit.edu	37	6	41303865	41303865	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:41303865G>A	ENST00000373083.4	+	2	315	c.93G>A	c.(91-93)gtG>gtA	p.V31V	NCR2_ENST00000373086.3_Silent_p.V31V|NCR2_ENST00000373089.5_Silent_p.V31V	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	31	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCAAAGTGTGGCAGGGCAGA	0.557000													12	45					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50872936	50872936	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:50872936C>A	ENST00000395562.2	+	16	2314	c.1845C>A	c.(1843-1845)caC>caA	p.H615Q	CHAT_ENST00000337653.2_Missense_Mutation_p.H697Q|CHAT_ENST00000395559.2_Missense_Mutation_p.H579Q|CHAT_ENST00000339797.1_Missense_Mutation_p.H579Q|CHAT_ENST00000351556.3_Missense_Mutation_p.H579Q|CHAT_ENST00000455728.2_Intron	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	697					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTAGCTTTCACAGCTGCAAAG	0.512000													40	141					6.2361e-21	8.84429e-21	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	111970306	111970306	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:111970306C>T	ENST00000374566.3	-	18	2293	c.1776G>A	c.(1774-1776)gaG>gaA	p.E592E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	592						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTTTCTCCGAGACTT	0.413000													21	53					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79093945	79093945	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:79093945T>C	ENST00000370751.4	+	2	524	c.345T>C	c.(343-345)cgT>cgC	p.R115R	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	115						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGGTGTGTCGTTTATCGAAAA	0.313000													12	30					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132059244	132059244	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:132059244T>C	ENST00000414305.1	+	24	2569	c.2241T>C	c.(2239-2241)agT>agC	p.S747S	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.S747S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	747	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTGGTTAGTGGACCAATAT	0.313000													20	50					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50776766	50776766	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:50776766T>C	ENST00000216923.4	-	5	1008	c.659A>G	c.(658-660)aAg>aGg	p.K220R	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.K218R|ZFP64_ENST00000371518.2_Missense_Mutation_p.K220R|ZFP64_ENST00000346617.4_Missense_Mutation_p.K166R|ZFP64_ENST00000361387.2_Missense_Mutation_p.K220R	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCAGGTGCTTGTTGAGGCT	0.597000													31	102					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835845	247835845	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:247835845C>A	ENST00000359688.2	-	1	520	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTTTGGCCCACAGAAAGTC	0.483000													10	51					2.17888e-05	2.37361e-05	1	1	0
EGLN3	112399	broad.mit.edu	37	14	34419578	34419578	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:34419578G>T	ENST00000547327.2	-	1	709	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EGLN3_ENST00000250457.3_Intron|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	127	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GAGCAGCTGCGGCAGGGCGCC	0.607000													21	30					1.10923e-09	1.37058e-09	1	1	0
NUDT6	11162	broad.mit.edu	37	4	123814172	123814172	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:123814172C>A	ENST00000304430.5	-	5	795	c.762G>T	c.(760-762)ctG>ctT	p.L254L	NUDT6_ENST00000502270.1_Silent_p.L85L|NUDT6_ENST00000339154.2_Silent_p.L85L|FGF2_ENST00000264498.3_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	254	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CAGTCTTCGCCAGGTCATTGA	0.438000													31	87					5.77227e-19	8.10995e-19	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965518	35965518	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:35965518C>T	ENST00000274278.3	-	4	1170	c.813G>A	c.(811-813)ttG>ttA	p.L271L	UGT3A1_ENST00000333811.4_Silent_p.L217L|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Silent_p.L271L|UGT3A1_ENST00000507113.1_Silent_p.L237L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	271						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTCCATCAAGCCTCCAA	0.448000													12	48					0	0	1	0	0
PKMYT1	9088	broad.mit.edu	37	16	3024069	3024069	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:3024069A>T	ENST00000431515.2	-	7	1627	c.1242T>A	c.(1240-1242)ccT>ccA	p.P414P	PKMYT1_ENST00000262300.8_Silent_p.P414P|PKMYT1_ENST00000573944.1_Silent_p.P405P|PKMYT1_ENST00000574385.1_Silent_p.P405P|PKMYT1_ENST00000574730.1_Silent_p.P345P|PKMYT1_ENST00000440027.2_Silent_p.P414P			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	414	Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGGTGAGCCAGGCGGGGTGG	0.677000													3	15					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919874	142919874	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:142919874A>T	ENST00000408947.3	+	1	745	c.703A>T	c.(703-705)Agg>Tgg	p.R235W		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CACAGGGTCCAGGGACCCCAG	0.507000													38	112					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240351556	240351556	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:240351556C>G	ENST00000319653.9	+	4	2210	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	660					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGATGCTGTCCAGAAGGTAA	0.408000													16	48					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7047905	7047905	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:7047905G>T	ENST00000356654.4	+	7	3016	c.2779G>T	c.(2779-2781)Gat>Tat	p.D927Y	ATN1_ENST00000396684.2_Missense_Mutation_p.D927Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	927					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTACAGCAGTGATCCAGCTGC	0.622000													18	104					3.52763e-06	3.89942e-06	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56420144	56420144	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:56420144G>T	ENST00000407595.2	+	2	1311	c.809G>T	c.(808-810)cGc>cTc	p.R270L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	270	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCCCAGATCGCCCCAAAGCA	0.652000													15	40					2.31682e-05	2.49376e-05	1	1	0
ZNF668	79759	broad.mit.edu	37	16	31075210	31075210	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:31075210C>T	ENST00000538906.1	-	2	1355	c.571G>A	c.(571-573)Gct>Act	p.A191T	ZNF668_ENST00000300849.4_Missense_Mutation_p.A191T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A214T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A214T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A191T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A191T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCAGGCCAGCGTGAGTACGC	0.667000													5	7					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442627	77442627	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:77442627G>C	ENST00000359047.2	-	7	1145	c.908C>G	c.(907-909)cCc>cGc	p.P303R	TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000360774.1_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	0					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGATGGTCAGGGAAGACCATG	0.557000													19	13					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874378	39874378	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:39874378G>A	ENST00000308559.7	-	10	1751	c.1618C>T	c.(1618-1620)Cac>Tac	p.H540Y	MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.H556Y|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.H556Y|MOCS1_ENST00000373195.3_Missense_Mutation_p.H453Y|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	556	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGGCCACGTGGTGGCACAGA	0.652000													13	53					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632130	156632130	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:156632130C>A	ENST00000296518.7	+	6	1022	c.813C>A	c.(811-813)ccC>ccA	p.P271P	GUCY1A3_ENST00000393832.3_Silent_p.P13P|GUCY1A3_ENST00000506455.1_Silent_p.P271P|GUCY1A3_ENST00000511108.1_Silent_p.P271P|GUCY1A3_ENST00000513574.1_Silent_p.P271P|GUCY1A3_ENST00000511507.1_Silent_p.P271P|GUCY1A3_ENST00000455639.2_Silent_p.P271P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	271					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCAGCAAACCCCAGTCCTCGC	0.463000													21	67					3.83957e-06	4.23385e-06	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801724	20801724	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:20801724G>T	ENST00000359062.3	+	13	2708	c.2668G>T	c.(2668-2670)Gac>Tac	p.D890Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	890	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AATTAACCTTGACCATGTGGA	0.408000													28	120					2.79863e-10	3.51583e-10	1	1	0
MYH2	4620	broad.mit.edu	37	17	10432120	10432120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:10432120C>A	ENST00000245503.5	-	27	4015	c.3631G>T	c.(3631-3633)Gag>Tag	p.E1211*	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1211*|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1211					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAATCTGCTCCCCAAGCTCG	0.537000													33	77					4.74835e-14	6.39256e-14	1	1	0
SLC25A13	10165	broad.mit.edu	37	7	95775870	95775870	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:95775870T>C	ENST00000416240.2	-	14	1643	c.1453A>G	c.(1453-1455)Aag>Gag	p.K485E	SLC25A13_ENST00000542654.1_Missense_Mutation_p.K376E|SLC25A13_ENST00000265631.5_Missense_Mutation_p.K484E	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	484					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAAGTTACCTTGTAGATCCCA	0.388000													36	89					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101194741	101194741	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:101194741T>G	ENST00000341267.4	+	2	318	c.76T>G	c.(76-78)Tgc>Ggc	p.C26G	DLK1_ENST00000556051.1_Missense_Mutation_p.C26G|DLK1_ENST00000331224.6_Missense_Mutation_p.C26G	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	26	EGF-like 1.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGGGCTGAATGCTTCCCGGC	0.572000													5	34					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318355	113318355	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113318355C>G	ENST00000297405.5	-	51	8196	c.7952G>C	c.(7951-7953)gGa>gCa	p.G2651A	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2547A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2581A|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2611A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2651	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTCGCGTTCCTACCAAATA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	80					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68665462	68665462	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:68665462G>T	ENST00000362034.2	-	3	174	c.165C>A	c.(163-165)tcC>tcA	p.S55S	MRPL21_ENST00000567045.1_5'UTR|MRPL21_ENST00000450904.2_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	55					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGAACTCAGGGATGTTTTAG	0.473000													37	123					8.73648e-17	1.21986e-16	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355782	118355782	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:118355782C>G	ENST00000528052.1	+	6	593	c.522C>G	c.(520-522)gcC>gcG	p.A174A	PNLIPRP1_ENST00000534537.1_Silent_p.A174A|PNLIPRP1_ENST00000358834.4_Silent_p.A174A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	174					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCCTGGGAGCCCACGTGGCTG	0.552000													31	149					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354396	42354396	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:42354396C>T	ENST00000269945.3	+	7	823	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L258F	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	258	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AACTCTGATACTCCAGCCCTG	0.537000													49	157					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228169782	228169782	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228169782G>A	ENST00000396578.3	+	47	4397	c.4235G>A	c.(4234-4236)gGt>gAt	p.G1412D	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1412	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCAACAAAGGTTCTAAAGGA	0.488000													4	21					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622000													3	40					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531728	84531728	+	RNA	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:84531728G>C	ENST00000527857.1	+	0	1750					NR_026851.1																						ACCCTGCCCAGAGGTCAGTCC	0.517000													7	25					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652970	152652970	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:152652970C>A	ENST00000367255.5	-	78	13451	c.12850G>T	c.(12850-12852)Gca>Tca	p.A4284S	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4284S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4149S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4284					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTGCAATGCCAATGCTAAC	0.373000										HNSCC(10;0.0054)			34	86					3.90053e-15	5.36322e-15	1	1	0
MOGAT1	116255	broad.mit.edu	37	2	223554124	223554124	+	Silent	SNP	A	A	T	rs147393916	by1000genomes	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:223554124A>T	ENST00000446656.3	+	3	414	c.414A>T	c.(412-414)tcA>tcT	p.S138S		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	138					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCTTTACTTCATATCTTCACG	0.428000													18	54					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319644	21319644	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:21319644G>T	ENST00000583088.1	+	3	1885	c.990G>T	c.(988-990)gtG>gtT	p.V330V	KCNJ12_ENST00000331718.5_Silent_p.V330V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTGAGCCCGTGCTCTTCGAGG	0.587000										Prostate(3;0.18)			11	163					1.58986e-06	1.77044e-06	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19480696	19480696	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:19480696C>A	ENST00000270570.4	+	17	1629	c.1543C>A	c.(1543-1545)Cct>Act	p.P515T	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213T|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GACAGGCGAGCCTCAGTCAGA	0.498000													26	62					1.64293e-13	2.18573e-13	1	1	0
PKN2	5586	broad.mit.edu	37	1	89271325	89271325	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:89271325A>T	ENST00000370521.3	+	11	2006	c.1647A>T	c.(1645-1647)gtA>gtT	p.V549V	PKN2_ENST00000370513.5_Silent_p.V501V|PKN2_ENST00000544045.1_Silent_p.V223V|PKN2_ENST00000316005.7_Silent_p.V549V|PKN2_ENST00000370505.3_Silent_p.V392V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	549					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGTTGATGTACGCATCCCTC	0.448000													9	26					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123104904	123104904	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:123104904C>A	ENST00000466202.1	-	10	2317	c.1741G>T	c.(1741-1743)Gtt>Ttt	p.V581F	IQUB_ENST00000324698.6_Missense_Mutation_p.V581F|IQUB_ENST00000434450.1_Missense_Mutation_p.V581F			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	581										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATTTTGCAACTTCAGGATTA	0.303000													30	62					1.39806e-14	1.9049e-14	1	1	0
C8orf31	286122	broad.mit.edu	37	8	144130634	144130634	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:144130634C>G	ENST00000395172.1	+	5	716	c.364C>G	c.(364-366)Cgg>Ggg	p.R122G	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	122								p.R122R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					aggattctctcggcaccacgg	0.512000													25	27					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7895935	7895935	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:7895935G>A	ENST00000377532.3	+	19	3552	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K	PER3_ENST00000361923.2_Missense_Mutation_p.E1101K			P56645	PER3_HUMAN	period circadian clock 3	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGTCGCCGAAGAGCCCAT	0.418000													13	42					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1980436	1980436	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1980436C>A	ENST00000382895.3	+	24	4329	c.3898C>A	c.(3898-3900)Ccc>Acc	p.P1300T	WHSC1_ENST00000508803.1_Missense_Mutation_p.P1300T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.P648T|WHSC1_ENST00000382891.5_Missense_Mutation_p.P1300T|WHSC1_ENST00000382892.2_Missense_Mutation_p.P1300T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1300					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCACCTCTGCCCCAATTCGTT	0.562000			T	IGH@	MM								10	24					3.86212e-05	4.12753e-05	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54147356	54147356	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:54147356G>T	ENST00000265572.3	-	3	870	c.573C>A	c.(571-573)atC>atA	p.I191I	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.I191I|OPRK1_ENST00000524278.1_Silent_p.I102I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	191					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.I191I(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CTATTGCAGAGATGCCAACAG	0.448000													24	92					2.21704e-12	2.90664e-12	1	1	0
PLCL2	23228	broad.mit.edu	37	3	17051331	17051331	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:17051331C>T	ENST00000418129.2	+	2	580	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	PLCL2_ENST00000432376.1_Silent_p.L39L|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.L39L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	165	Gly-rich.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTACTTTTTACTGGATGCTGA	0.403000													10	56					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790055	137790055	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:137790055G>T	ENST00000242375.3	+	5	501	c.459G>T	c.(457-459)gcG>gcT	p.A153A	AKR1D1_ENST00000432161.1_Silent_p.A153A|AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	153					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTCTACAGGCGATGGAAGCTT	0.453000													48	116					2.24722e-20	3.1771e-20	1	1	0
FGF12	2257	broad.mit.edu	37	3	192125893	192125893	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:192125893C>T	ENST00000454309.2	-	1	945	c.120G>A	c.(118-120)ctG>ctA	p.L40L	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	40					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.L40L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GCCTCTCGCACAGGGAGCGCC	0.672000													31	94					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167663155	167663155	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:167663155C>A	ENST00000357154.3	-	10	1133	c.996G>T	c.(994-996)aaG>aaT	p.K332N	SPOCK3_ENST00000357545.4_Missense_Mutation_p.K329N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K289N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K281N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K212N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K200N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.K236N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	332	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACCTAGGAGCTTCTTTACCC	0.378000													32	58					9.93527e-08	1.14599e-07	1	1	0
SLA	6503	broad.mit.edu	37	8	134057291	134057291	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:134057291C>A	ENST00000338087.5	-	7	1241	c.422G>T	c.(421-423)tGg>tTg	p.W141L	SLA_ENST00000395352.3_Missense_Mutation_p.W158L|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.W33L|SLA_ENST00000517648.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.W181L|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	141	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AATGTAGTACCAGTTGTTGGG	0.512000													12	47					0.010729	0.0109475	1	1	0
EML4	27436	broad.mit.edu	37	2	42472706	42472706	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:42472706A>G	ENST00000318522.5	+	2	349	c.87A>G	c.(85-87)tcA>tcG	p.S29S	EML4_ENST00000402711.2_Silent_p.S29S|EML4_ENST00000401738.3_Silent_p.S29S|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	29					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CTCTTGAGTCACGAGTTCAGC	0.383000			T	ALK	NSCLC								17	36					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186060049	186060049	+	Splice_Site	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:186060049G>T	ENST00000271588.4	+	64	10116	c.9887_splice	c.e64+1	p.R3296_splice	HMCN1_ENST00000367492.2_Splice_Site_p.R3296_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3296	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGAATCCGGTATGTTTAA	0.353000													14	53					7.93312e-07	8.92229e-07	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8636759	8636759	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:8636759G>T	ENST00000381196.4	-	10	693	c.150C>A	c.(148-150)gaC>gaA	p.D50E	PTPRD_ENST00000397606.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397617.3_Missense_Mutation_p.D50E|PTPRD_ENST00000463477.1_Missense_Mutation_p.D50E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D50E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D50E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D50E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D50E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D50E|PTPRD_ENST00000356435.5_Missense_Mutation_p.D50E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D50E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	50	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGTCTTGGGTCTCCCGTAG	0.443000										TSP Lung(15;0.13)			15	54					1.49906e-05	1.63699e-05	1	1	0
MED12	9968	broad.mit.edu	37	X	70345277	70345277	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70345277G>T	ENST00000333646.6	+	16	2502	c.2303G>T	c.(2302-2304)cGc>cTc	p.R768L	MED12_ENST00000374102.1_Missense_Mutation_p.R768L|MED12_ENST00000374080.3_Missense_Mutation_p.R768L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	768					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGATGCCCGCCATGCCATC	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	10					2.0095e-06	2.22674e-06	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100963523	100963523	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:100963523G>C	ENST00000193391.7	-	13	1839	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	551					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGACACATCAGAGTCTTCCAT	0.393000													36	85					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709852	196709852	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:196709852T>A	ENST00000367429.4	+	18	3126	c.2886T>A	c.(2884-2886)ggT>ggA	p.G962G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	962	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTTTGAAGGTTTTGGAATTG	0.373000													26	67					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504976	151504976	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:151504976C>A	ENST00000317605.4	+	1	1900	c.795C>A	c.(793-795)ccC>ccA	p.P265P	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	265					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGAGCTACCCGGCCAGCCGC	0.627000													14	55					0.00185496	0.00192319	1	1	0
PACS1	55690	broad.mit.edu	37	11	66008926	66008926	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:66008926A>G	ENST00000320580.4	+	22	2491	c.2458A>G	c.(2458-2460)Att>Gtt	p.I820V	PACS1_ENST00000529757.1_Missense_Mutation_p.I356V|PACS1_ENST00000524815.1_5'UTR	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	820					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGGGGACGTGATTGGCCTCCA	0.592000													6	45					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908115	164908115	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:164908115T>A	ENST00000475390.1	-	2	947	c.504A>T	c.(502-504)gcA>gcT	p.A168A	SLITRK3_ENST00000241274.3_Silent_p.A168A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	168						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTCCGAAATGCCCCACTCT	0.383000										HNSCC(40;0.11)			21	60					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121342100	121342100	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:121342100C>A	ENST00000338040.4	+	3	2238	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	608	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ATATCTGTGCCACTTTGTTAC	0.507000													15	60					1.15088e-07	1.31737e-07	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21627744	21627744	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:21627744T>A	ENST00000328843.6	+	10	1804	c.1773T>A	c.(1771-1773)caT>caA	p.H591Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.H591Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	591	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGCCTACATTACAGCACAC	0.368000									Kartagener syndrome				7	22					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47062734	47062734	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:47062734A>G	ENST00000406902.1	+	10	1035	c.822A>G	c.(820-822)atA>atG	p.I274M	GRAMD4_ENST00000361034.3_Missense_Mutation_p.I274M			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	274					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGTGGCGGATACAGTGGAGCA	0.622000													22	66					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215674	20215674	+	Missense_Mutation	SNP	C	C	A	rs4494468		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:20215674C>A	ENST00000331723.1	+	1	88	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTCTTACTATTTTTGTT	0.378000													33	115					1.1423e-28	1.63549e-28	1	1	0
SYTL5	94122	broad.mit.edu	37	X	37913470	37913470	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:37913470C>A	ENST00000357972.5	+	3	670	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	SYTL5_ENST00000297875.2_Missense_Mutation_p.L42M|SYTL5_ENST00000456733.2_Missense_Mutation_p.L42M|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	42	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTCAGGAAGCTGAAAAATGA	0.358000													10	10					1.76689e-08	2.08604e-08	1	1	0
NEK10	152110	broad.mit.edu	37	3	27183039	27183039	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:27183039C>A	ENST00000429845.2	-	34	3437	c.3075G>T	c.(3073-3075)gtG>gtT	p.V1025V	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Silent_p.V327V|NEK10_ENST00000383770.3_Silent_p.V280V|NEK10_ENST00000295720.6_Silent_p.V337V			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1025							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATCTGACGCACTTTCCTCT	0.358000													7	60					5.18039e-06	5.69843e-06	1	1	0
LRP2	4036	broad.mit.edu	37	2	169999284	169999284	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:169999284C>A	ENST00000263816.3	-	71	13293	c.13008G>T	c.(13006-13008)caG>caT	p.Q4336H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4336	EGF-like 16.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGCAGATCTGTTTGCAAA	0.537000													21	56					1.55795e-14	2.11001e-14	1	1	0
UBE2S	27338	broad.mit.edu	37	19	55915802	55915802	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:55915802G>A	ENST00000264552.9	-	3	383	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	UBE2S_ENST00000589978.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	66					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCCTTCCCCAGCAGGAGTTTC	0.612000													6	16					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327826	80327826	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:80327826G>A	ENST00000358842.3	-	1	1546	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	510					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCAACCCATTGACTTCATTAC	0.443000													18	78					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52842695	52842695	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:52842695C>T	ENST00000252252.3	-	6	1181	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	378	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAATCTCCTGCTTGGTGTTGC	0.552000													25	31					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988327	26988327	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:26988327C>A	ENST00000231021.4	-	2	286	c.114G>T	c.(112-114)gcG>gcT	p.A38A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	38			A -> V (in dbSNP:rs2288466).		adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTGTCAGACCCGCTATCTTTT	0.393000													18	42					4.75885e-15	6.52353e-15	1	1	0
NMD3	51068	broad.mit.edu	37	3	160964156	160964156	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:160964156A>G	ENST00000460469.1	+	11	1505	c.1050A>G	c.(1048-1050)acA>acG	p.T350T	NMD3_ENST00000351193.2_Silent_p.T350T|NMD3_ENST00000472947.1_Silent_p.T350T			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	350					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TACAGAAGACATCTGAAATGA	0.358000													13	43					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45614759	45614759	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:45614759A>T	ENST00000297323.7	+	1	639	c.617A>T	c.(616-618)aAg>aTg	p.K206M	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	206					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTCCCCGCCAAGCGCCCACGT	0.662000													6	16					0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71816193	71816193	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:71816193A>C	ENST00000580087.1	+	1	436	c.150A>C	c.(148-150)aaA>aaC	p.K50N	TIMM21_ENST00000169551.6_Missense_Mutation_p.K50N			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	50					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											ATCAAAAGAAAACGCTGCGAC	0.498000													38	84					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16982125	16982125	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:16982125G>A	ENST00000377833.4	-	37	5519	c.5454C>T	c.(5452-5454)ctC>ctT	p.L1818L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1818	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGAATAATTGAGAGGGAAGG	0.498000													104	165					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473173	22473173	+	RNA	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:22473173G>T	ENST00000557788.2	-	0	97																											GGTCTCCGAAGGCTTCACCAG	0.647000													29	191					9.39395e-14	1.25345e-13	1	1	0
IL12RB2	3595	broad.mit.edu	37	1	67861293	67861293	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:67861293C>A	ENST00000262345.1	+	16	2750	c.2110C>A	c.(2110-2112)Ccg>Acg	p.P704T	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618T|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	704					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGATCCTGAACCGCTGGTCAT	0.537000													15	51					2.31682e-05	2.49376e-05	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35993268	35993268	+	Silent	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:35993268T>G	ENST00000297866.5	+	14	2325	c.2259T>G	c.(2257-2259)ccT>ccG	p.P753P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	753										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						TTTCAGGGCCTTCTGTCCTTA	0.284000													29	25					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264526	37264526	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:37264526G>T	ENST00000310758.4	-	9	1306	c.659C>A	c.(658-660)gCg>gAg	p.A220E	ELMO1_ENST00000448602.1_Missense_Mutation_p.A220E|ELMO1_ENST00000442504.1_Missense_Mutation_p.A220E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	220					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCTCCTGCGCCACTTTCTG	0.527000													23	53					1.50039e-11	1.93336e-11	1	1	0
AP5Z1	9907	broad.mit.edu	37	7	4825067	4825067	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:4825067C>A	ENST00000348624.4	+	8	1047	c.953C>A	c.(952-954)tCc>tAc	p.S318Y	AP5Z1_ENST00000401897.1_Missense_Mutation_p.S318Y	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	318					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										AAGGGGGACTCCGACCTGCAG	0.622000													5	11					0.000602214	0.000627249	1	1	0
RPL10L	140801	broad.mit.edu	37	14	47120455	47120455	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:47120455C>A	ENST00000298283.3	-	1	573	c.485G>T	c.(484-486)cGc>cTc	p.R162L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AATCTTCTGGCGTCCAGGGAA	0.498000													38	78					5.43694e-19	7.66268e-19	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:55904831G>A	ENST00000301529.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502000													28	51					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70443968	70443968	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:70443968G>A	ENST00000416149.2	-	8	656	c.633C>T	c.(631-633)taC>taT	p.Y211Y	TIA1_ENST00000482876.1_Intron|TIA1_ENST00000415783.2_Intron|TIA1_ENST00000282574.4_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000433529.2_Intron|TIA1_ENST00000445587.1_Intron			P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	313					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AAAATCTAGCGTATTTTTCTC	0.373000													48	108					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157659664	157659664	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:157659664C>T	ENST00000368184.3	-	10	2025	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T578T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	578						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCACCAGCCCCGTGATTCCCG	0.562000													9	44					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28895897	28895897	+	Splice_Site	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:28895897G>T	ENST00000395503.4	+	6	649	c.463_splice	c.e6-1	p.V155_splice	ATP2A1_ENST00000536376.1_Splice_Site_p.V30_splice|ATP2A1_ENST00000357084.3_Splice_Site_p.V155_splice	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	155					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTCCACAGTGGGGGACAAAG	0.532000													8	25					7.48243e-07	8.45758e-07	1	1	0
OR2B3	442184	broad.mit.edu	37	6	29054757	29054757	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29054757T>C	ENST00000377173.2	-	1	333	c.269A>G	c.(268-270)aAg>aGg	p.K90R		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GCTGATGGTCTTTTTGTTGCA	0.443000													24	77					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391744	23391744	+	Silent	SNP	C	C	T	rs61759916	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:23391744C>T	ENST00000343070.2	+	13	1721	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	SCNN1B_ENST00000568923.1_Silent_p.I488I|SCNN1B_ENST00000307331.5_Silent_p.I560I|SCNN1B_ENST00000568085.1_Silent_p.I479I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	515					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCCACAGATCGTCTGGCTGC	0.582000													25	54					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186446225	186446225	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:186446225G>A	ENST00000284767.5	-	2	261	c.194C>T	c.(193-195)gCg>gTg	p.A65V	PDLIM3_ENST00000284770.5_Missense_Mutation_p.A65V|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A65V			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	65	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCTGTCCTGCGCATCAGCATG	0.493000													39	70					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768526	51768526	+	Splice_Site	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:51768526C>T	ENST00000371117.3	-	43	7141		c.e43-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGACCAGTCTAATGTTTCA	0.398000													25	63					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57610988	57610988	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:57610988C>T	ENST00000371236.2	-	3	445	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	DAB1_ENST00000414851.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371230.1_Missense_Mutation_p.C61Y|DAB1_ENST00000371234.4_Missense_Mutation_p.C61Y|DAB1_ENST00000439789.2_Missense_Mutation_p.C61Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371231.1_Missense_Mutation_p.C61Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	61	PID.				cell differentiation|nervous system development			p.C61F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGAATCTTGACATAACTTGTC	0.393000													17	60					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211771	17211771	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:17211771C>A	ENST00000261381.6	-	11	2373	c.2289G>T	c.(2287-2289)atG>atT	p.M763I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	763					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGGCTCATCCATGGGCCCCA	0.572000													23	42					2.48779e-11	3.17846e-11	1	1	0
OPRM1	4988	broad.mit.edu	37	6	154360660	154360660	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:154360660C>G	ENST00000434900.2	+	3	778	c.260C>G	c.(259-261)gCc>gGc	p.A87G	OPRM1_ENST00000229768.5_5'UTR|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000330432.7_5'UTR|OPRM1_ENST00000435918.2_5'UTR|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000428397.2_5'UTR	NM_001145279.2	NP_001138751.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CACAGCGGTGCCCGCCCGGCC	0.632000													3	8					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121879997	121879997	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:121879997A>T	ENST00000377069.4	-	18	3446	c.3040T>A	c.(3040-3042)Tgt>Agt	p.C1014S	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.C1083S|KDM2B_ENST00000542973.1_Missense_Mutation_p.C451S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1083	Pro-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGCACACACACAGGTCTTGG	0.662000													5	33					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468959	56468959	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:56468959C>T	ENST00000288221.6	-	2	332	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	26						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGGCCCAAACGAGGAGACCT	0.488000													8	48					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80880327	80880327	+	Silent	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:80880327A>C	ENST00000424347.2	+	14	1954	c.1665A>C	c.(1663-1665)tcA>tcC	p.S555S	CEP78_ENST00000376597.4_Silent_p.S556S|CEP78_ENST00000376598.2_Silent_p.S555S|CEP78_ENST00000277082.5_Silent_p.S555S|CEP78_ENST00000415759.2_Silent_p.S556S			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	555					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TAGATCAGTCAGATTTTCAAT	0.438000													5	4					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196765116	196765116	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196765116T>C	ENST00000312428.6	-	28	4538	c.4438A>G	c.(4438-4440)Aaa>Gaa	p.K1480E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1480	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCACAATTTTTACAGACAGT	0.463000													50	131					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186094925	186094925	+	Splice_Site	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:186094925T>C	ENST00000271588.4	+	82	12918	c.12690_splice	c.e82+1	p.V4230_splice	HMCN1_ENST00000367492.2_Splice_Site_p.V4230_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4230	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAATGTTGTGGTAAGTTTA	0.303000													14	41					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734043	28734043	+	RNA	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:28734043C>A	ENST00000550043.1	+	0	448																											AGCTCACAGTCTGAGGAAGAT	0.453000													30	59					1.75199e-13	2.32396e-13	1	1	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182435	82182435	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:82182435C>G	ENST00000258169.4	-	5	434	c.384G>C	c.(382-384)aaG>aaC	p.K128N	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.K99N	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	128					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TTCTGGCAAACTTTTTCCCAA	0.398000													34	101					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81317057	81317057	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:81317057G>A	ENST00000372325.2	-	6	739	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R219W	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	219	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTTTTCCCCGACCTGCAGGC	0.557000									Pulmonary Fibrosis, Idiopathic				25	199					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	19					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161418	55161418	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:55161418G>T	ENST00000257290.5	+	23	3580	c.3249G>T	c.(3247-3249)ctG>ctT	p.L1083L	FIP1L1_ENST00000507166.1_Silent_p.L843L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1083	Ser-rich.				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)	CTTCAGACCTGGTGGAAGACA	0.512000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			34	106					6.29468e-14	8.44912e-14	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61986650	61986650	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:61986650C>T	ENST00000409186.1	-	5	3687	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D528N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	501	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTATCATTGTCATCTAAAAGT	0.398000													46	94					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252411	46252411	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:46252411C>G	ENST00000510861.1	-	10	1443	c.1270G>C	c.(1270-1272)Gtt>Ctt	p.V424L	GABRA2_ENST00000381620.4_Missense_Mutation_p.V424L|GABRA2_ENST00000540012.1_Missense_Mutation_p.V429L|GABRA2_ENST00000514090.1_Missense_Mutation_p.V424L|GABRA2_ENST00000356504.1_Missense_Mutation_p.V424L|GABRA2_ENST00000507069.1_Missense_Mutation_p.V484L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	424					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGGAAAAACTATTCTGGAC	0.393000													34	105					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103225478	103225478	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:103225478A>G	ENST00000424970.2	-	6	1151	c.836T>C	c.(835-837)cTa>cCa	p.L279P	SLC39A8_ENST00000394833.2_Missense_Mutation_p.L279P|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L279P	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	279						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ATATACCTGTAGAGATACCAC	0.348000													19	52					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831891	5831891	+	Missense_Mutation	SNP	G	G	T	rs364637	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:5831891G>T	ENST00000318336.4	-	3	1882	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	FUT6_ENST00000592563.1_Missense_Mutation_p.Q230K|FUT6_ENST00000524754.1_Missense_Mutation_p.Q230K|FUT6_ENST00000286955.5_Missense_Mutation_p.Q230K|FUT6_ENST00000527106.1_Missense_Mutation_p.Q230K	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	230			Q -> K (in dbSNP:rs364637).		L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATGGTTCCCTGGGGCAGGGGC	0.612000													16	77					1.1804e-14	1.61321e-14	1	1	0
COL10A1	1300	broad.mit.edu	37	6	116442113	116442113	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:116442113C>T	ENST00000327673.4	-	2	1573	c.1166G>A	c.(1165-1167)gGg>gAg	p.G389E	COL10A1_ENST00000243222.4_Missense_Mutation_p.G389E|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	389	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCCTGGGTACCCTGGTTTTCC	0.597000													18	35					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75675872	75675872	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:75675872T>A	ENST00000395743.3	-	4	699	c.339A>T	c.(337-339)agA>agT	p.R113S		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	113					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTCTGTCTCCTCTTAGGTAAA	0.398000													36	146					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196765106	196765106	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196765106G>C	ENST00000312428.6	-	28	4548	c.4448C>G	c.(4447-4449)gCt>gGt	p.A1483G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1483	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCGATACGTAGCCACAATTTT	0.458000													50	120					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186358445	186358445	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:186358445C>G	ENST00000265029.3	+	1	297	c.196C>G	c.(196-198)Cga>Gga	p.R66G	FETUB_ENST00000382134.3_Missense_Mutation_p.R66G|FETUB_ENST00000382136.3_Missense_Mutation_p.R66G|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Missense_Mutation_p.R66G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	66	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity	p.R66*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGACTCAACCGAGTGAACGA	0.572000													39	126					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113569034	113569034	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113569034C>A	ENST00000297405.5	-	25	4436	c.4192G>T	c.(4192-4194)Ggg>Tgg	p.G1398W	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1294W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1398W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1358W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1398	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCTCTCCCCTGTCATGCAC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	70					8.34094e-07	9.35762e-07	1	1	0
CPT1A	1374	broad.mit.edu	37	11	68548156	68548156	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:68548156G>T	ENST00000265641.5	-	12	1564	c.1410C>A	c.(1408-1410)aaC>aaA	p.N470K	CPT1A_ENST00000376618.2_Missense_Mutation_p.N470K|CPT1A_ENST00000540367.1_Missense_Mutation_p.N470K|CPT1A_ENST00000539743.1_Missense_Mutation_p.N470K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	470					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTGTTCAGCGTTGAGGCCCA	0.463000													101	52					1.14904e-54	1.67166e-54	1	1	0
SLC13A1	6561	broad.mit.edu	37	7	122759279	122759279	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:122759279C>T	ENST00000194130.2	-	13	1407	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	456						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTCCTATCCACTTAGATAATC	0.308000													15	37					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977521	30977521	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:30977521C>T	ENST00000262519.8	+	8	3005	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCTGCCACCCAGGGAAGAAG	0.667000													7	31					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991721	21991721	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:21991721A>C	ENST00000327430.3	-	2	2435	c.2141T>G	c.(2140-2142)cTg>cGg	p.L714R	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.L577R	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	714							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGCCCCCCAGGTGCATCCG	0.607000													8	32					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459511	56459511	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:56459511G>T	ENST00000291971.3	+	1	314	c.243G>T	c.(241-243)tgG>tgT	p.W81C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W81C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	81	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCAGCTGGGCAGAGGTGG	0.522000													16	39					2.31682e-05	2.49376e-05	1	1	0
CDH9	1007	broad.mit.edu	37	5	26903772	26903772	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:26903772G>T	ENST00000231021.4	-	6	1145	c.973C>A	c.(973-975)Cag>Aag	p.Q325K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	325	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCCCTTCCTGTGTATCCTTG	0.398000													55	154					6.3237e-29	9.08277e-29	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7399318	7399318	+	Missense_Mutation	SNP	G	G	C	rs150809300		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7399318G>C	ENST00000322644.6	+	2	551	c.152G>C	c.(151-153)cGc>cCc	p.R51P	POLR2A_ENST00000572844.1_Missense_Mutation_p.R51P	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	51					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGGGAGGCCGCCCCAAGCTT	0.592000													14	47					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150938997	150938997	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:150938997C>G	ENST00000271688.6	-	10	1343	c.957G>C	c.(955-957)tgG>tgC	p.W319C	CERS2_ENST00000561294.1_Missense_Mutation_p.W310C|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.W319C	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	319	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGAGGTAGGCCCAGAAGATAT	0.478000													15	36					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6302728	6302728	+	Silent	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:6302728G>C	ENST00000226760.1	+	8	1376	c.1206G>C	c.(1204-1206)ctG>ctC	p.L402L	WFS1_ENST00000503569.1_Silent_p.L402L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	402					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAACCACCTGGAGCCCTATG	0.607000													34	104					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17206577	17206577	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:17206577T>C	ENST00000180173.5	-	5	516	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	MTMR7_ENST00000521857.1_Missense_Mutation_p.Y161C|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	161	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCAGTAGGATAAGAGTCACA	0.473000													25	39					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142186867	142186867	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:142186867T>C	ENST00000350721.4	-	39	6717	c.6596A>G	c.(6595-6597)aAt>aGt	p.N2199S	ATR_ENST00000383101.3_Missense_Mutation_p.N2135S|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2199					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATAGCTTTATTGAGGATTTC	0.333000								Other conserved DNA damage response genes					30	85					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183600970	183600970	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:183600970T>C	ENST00000511685.1	+	8	1601	c.1478T>C	c.(1477-1479)cTg>cCg	p.L493P	TENM3_ENST00000406950.2_Missense_Mutation_p.L493P					teneurin transmembrane protein 3																		ATCTGGCATCTGGCTTTTTAT	0.483000													9	17					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247554	164247554	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:164247554G>T	ENST00000296533.2	-	2	684	c.153C>A	c.(151-153)atC>atA	p.I51I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	51					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACCAAGAATGATCACAGCTC	0.413000													25	71					1.85244e-09	2.25798e-09	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52198454	52198454	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:52198454T>A	ENST00000371471.2	-	2	1337	c.912A>T	c.(910-912)aaA>aaT	p.K304N	ZNF217_ENST00000302342.3_Missense_Mutation_p.K304N			O75362	ZN217_HUMAN	zinc finger protein 217	304					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)			CAACTTTTCCTTTGGTAGCCA	0.517000													30	91					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570038	22570038	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:22570038G>T	ENST00000510882.2	+	1	244	c.234G>T	c.(232-234)ggG>ggT	p.G78G	HDGFL1_ENST00000230012.3_Silent_p.G78G			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	78										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TCAGCGCGGGGCTGTGGGAAA	0.652000													7	14					2.0095e-06	2.22674e-06	1	1	0
CCDC138	165055	broad.mit.edu	37	2	109473416	109473416	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:109473416G>T	ENST00000295124.4	+	13	1743	c.1683G>T	c.(1681-1683)acG>acT	p.T561T	CCDC138_ENST00000412964.2_Silent_p.T561T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	561										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCCAGATGACGGTGGAATCTA	0.343000													14	56					4.3838e-07	4.99266e-07	1	1	0
CLEC4D	338339	broad.mit.edu	37	12	8667867	8667867	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:8667867G>T	ENST00000299665.2	+	2	257	c.64G>T	c.(64-66)Gtt>Ttt	p.V22F		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	22					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)					GATACCTTCGGTTATTGCTGT	0.378000													26	92					2.48779e-11	3.17846e-11	1	1	0
KLHL32	114792	broad.mit.edu	37	6	97512561	97512561	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:97512561C>A	ENST00000369261.4	+	5	733	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.L88M	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	124										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCACCTACAGCTGTTGGAGCT	0.443000													6	27					0.0215528	0.0218434	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234444872	234444872	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:234444872A>T	ENST00000366618.3	+	4	779	c.634A>T	c.(634-636)Aat>Tat	p.N212Y	SLC35F3_ENST00000366617.3_Missense_Mutation_p.N143Y	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	143					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTTTGGAGACAATGGCTTGAC	0.378000													21	51					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154866441	154866441	+	Splice_Site	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:154866441G>C	ENST00000460393.1	+	16	1720	c.1601_splice	c.e16+1	p.E534_splice	MME_ENST00000462745.1_Splice_Site_p.E534_splice|MME_ENST00000493237.1_Splice_Site_p.E534_splice|MME_ENST00000492661.1_Splice_Site_p.E534_splice|MME_ENST00000360490.2_Splice_Site_p.E534_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	534					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGACAAAGATGAGTGCGTATA	0.348000													7	48					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768124	13768124	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:13768124A>G	ENST00000279593.3	-	7	1787	c.1578T>C	c.(1576-1578)tcT>tcC	p.S526S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	526					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAAGGGCACAGAGAAGTCGA	0.527000													30	96					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731759	6731759	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:6731759T>A	ENST00000405858.1	-	5	1355	c.814A>T	c.(814-816)Agt>Tgt	p.S272C	ZNF12_ENST00000404360.1_Missense_Mutation_p.S198C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.S234C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	272					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACATTCACTGCATTCATAG	0.398000													10	50					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752115	21752115	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:21752115G>T	ENST00000382254.1	-	15	3202	c.2116C>A	c.(2116-2118)Ccc>Acc	p.P706T	CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCATGGGTGGTCTCTGA	0.448000										HNSCC(59;0.17)			21	81					7.07758e-08	8.20563e-08	1	1	0
CXorf21	80231	broad.mit.edu	37	X	30577959	30577959	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:30577959G>T	ENST00000378962.3	-	3	836	c.514C>A	c.(514-516)Cag>Aag	p.Q172K		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	172										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCACTGGGCTGAGTAGAAATG	0.428000													36	20					2.09667e-21	2.98295e-21	1	1	0
GBGT1	26301	broad.mit.edu	37	9	136029278	136029278	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:136029278T>A	ENST00000372040.3	-	7	1041	c.730A>T	c.(730-732)Agg>Tgg	p.R244W	GBGT1_ENST00000540636.1_Missense_Mutation_p.R227W|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Silent_p.A237A					globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GAAACACGCCTGCGCTCATAG	0.597000													25	40					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70512983	70512983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:70512983G>T	ENST00000260128.4	+	9	1597	c.880G>T	c.(880-882)Gag>Tag	p.E294*	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E294*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.E294*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E294*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	294					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATTCTGTGGAGAGGGTAAG	0.443000													21	139					8.10497e-08	9.37267e-08	1	1	0
CEP350	9857	broad.mit.edu	37	1	180034395	180034395	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:180034395G>T	ENST00000367607.3	+	27	5973	c.5555G>T	c.(5554-5556)cGc>cTc	p.R1852L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1852						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGAGAAGCCGCATGGATGAA	0.358000													8	22					1.26484e-09	1.55859e-09	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328295	88328295	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:88328295G>T	ENST00000325089.6	+	2	871	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	218						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTGCCCTACGTGGGGCTCTT	0.483000													23	35					1.50039e-11	1.93336e-11	1	1	0
RGS7	6000	broad.mit.edu	37	1	240976951	240976951	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:240976951G>T	ENST00000366565.1	-	13	1304	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	RGS7_ENST00000348120.2_Missense_Mutation_p.S255Y|RGS7_ENST00000401882.1_Missense_Mutation_p.S255Y|RGS7_ENST00000366562.4_Missense_Mutation_p.S308Y|RGS7_ENST00000366564.1_Missense_Mutation_p.S308Y|RGS7_ENST00000407727.1_Missense_Mutation_p.S308Y|RGS7_ENST00000446183.2_Missense_Mutation_p.S224Y|RGS7_ENST00000366563.1_Missense_Mutation_p.S308Y|RGS7_ENST00000331110.7_Missense_Mutation_p.S282Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	308	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGTGTCATCGGACAGCCATGG	0.443000													15	24					7.93312e-07	8.92229e-07	1	1	0
IVL	3713	broad.mit.edu	37	1	152883955	152883955	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:152883955C>G	ENST00000368764.3	+	2	1746	c.1682C>G	c.(1681-1683)aCa>aGa	p.T561R	IVL_ENST00000392667.2_Missense_Mutation_p.T415R			P07476	INVO_HUMAN	involucrin	561					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTGCCCACAAAGGGAGAA	0.592000													14	44					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051742	132051742	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:132051742C>A	ENST00000286355.5	-	1	2930	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S	ADCY8_ENST00000377928.3_Missense_Mutation_p.A280S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	280					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTAGGTGGCGAAGAGCGTG	0.667000										HNSCC(32;0.087)			8	40					0.0477658	0.0483012	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588500	20588500	+	RNA	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:20588500A>T	ENST00000428453.1	-	0	4250																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACACTTCCCTAGGGAAAACCT	0.493000													15	28					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632432	111632432	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:111632432C>T	ENST00000431670.2	+	3	2013	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	PHLDB2_ENST00000393925.3_Silent_p.T534T|PHLDB2_ENST00000477695.1_Silent_p.T534T|PHLDB2_ENST00000495180.1_Silent_p.T120T|PHLDB2_ENST00000393923.3_Silent_p.T561T|PHLDB2_ENST00000481953.1_Silent_p.T534T|PHLDB2_ENST00000412622.1_Silent_p.T534T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	534						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTTCTTTACCCCCAGGAGCA	0.562000													37	109					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140617	203140617	+	Silent	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:203140617G>C	ENST00000255416.4	-	5	744	c.687C>G	c.(685-687)tcC>tcG	p.S229S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	229	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGAAGAGGATGGAGTCCTGGT	0.652000													6	27					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583720	10583720	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:10583720C>T	ENST00000304501.1	-	2	773	c.695G>A	c.(694-696)cGc>cAc	p.R232H	SOX7_ENST00000553390.1_Missense_Mutation_p.R284H|SOX7_ENST00000554914.1_Missense_Mutation_p.R284H	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	232					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGGATGCGGCGGGGATGGCC	0.682000													13	13					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70353025	70353025	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70353025A>G	ENST00000333646.6	+	33	4779	c.4580A>G	c.(4579-4581)cAg>cGg	p.Q1527R	MED12_ENST00000374102.1_Missense_Mutation_p.Q1527R|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.Q1527R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1527					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAACCAAAGCAGCTTATGCAT	0.463000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						23	13					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170722	214170722	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:214170722G>A	ENST00000366958.4	+	2	1452	c.844G>A	c.(844-846)Gag>Aag	p.E282K	PROX1_ENST00000261454.4_Missense_Mutation_p.E282K|PROX1_ENST00000498508.2_Missense_Mutation_p.E282K|PROX1_ENST00000435016.1_Missense_Mutation_p.E282K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	282					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATGCGCTCGGAGATCCTGGA	0.517000													8	34					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81283142	81283142	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:81283142G>C	ENST00000552864.1	-	2	291	c.89C>G	c.(88-90)gCa>gGa	p.A30G		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	30	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AATTGCTCTTGCAACATCTGA	0.343000													14	17					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272443	158272443	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:158272443G>T	ENST00000264192.3	-	8	947	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	CYTIP_ENST00000540637.1_Silent_p.R170R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	276	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTCGTCTGCCGACTGAAGGCA	0.537000													20	47					1.33834e-09	1.64019e-09	1	1	0
ZNF530	348327	broad.mit.edu	37	19	58117342	58117342	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:58117342G>T	ENST00000332854.6	+	3	669	c.449G>T	c.(448-450)gGg>gTg	p.G150V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGTGGATGGGGACCAGGCC	0.473000													28	55					1.77063e-15	2.44956e-15	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	14018745	14018745	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:14018745A>G	ENST00000279593.3	-	2	607	c.398T>C	c.(397-399)aTa>aCa	p.I133T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	133					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTGCCATTATCATAGAGGA	0.502000													30	182					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103245509	103245509	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:103245509G>A	ENST00000553106.1	-	8	1340	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	PAH_ENST00000307000.2_Missense_Mutation_p.H285Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	290					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAGGGCACATGTCCCAACAGC	0.468000													8	19					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432410	432410	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:432410G>T	ENST00000256509.2	+	21	3139	c.2497G>T	c.(2497-2499)Ggg>Tgg	p.G833W	CHL1_ENST00000397491.2_Missense_Mutation_p.G817W	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	817	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTGATCCATGGGGTGGACGT	0.363000													12	37					2.80697e-09	3.41225e-09	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60183406	60183406	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:60183406C>T	ENST00000300187.6	+	5	1242	c.965C>T	c.(964-966)tCc>tTc	p.S322F	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.S210F|MS4A14_ENST00000531783.1_Missense_Mutation_p.S355F|MS4A14_ENST00000395005.2_Missense_Mutation_p.S305F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	322						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACTTGCCATCCCAAGCTCTA	0.453000													12	30					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563763	228563763	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228563763C>A	ENST00000258403.3	-	3	739	c.668G>T	c.(667-669)gGt>gTt	p.G223V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G219V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	223					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGGTGCTTCACCTTCGTGAGT	0.448000													13	43					7.03913e-09	8.44321e-09	1	1	0
ZNF702P	79986	broad.mit.edu	37	19	53473212	53473212	+	RNA	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:53473212A>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GTTTCTCTCCAGTATGAATTC	0.383000													18	54					0	0	1	0	0
CCL20	6364	broad.mit.edu	37	2	228681044	228681044	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228681044G>T	ENST00000409189.3	+	3	280	c.210G>T	c.(208-210)ttG>ttT	p.L70F	CCL20_ENST00000358813.4_Missense_Mutation_p.L71F|CCL20_ENST00000473642.1_3'UTR	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	71					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGAAAAAGTTGTCTGTGTGCG	0.338000													15	37					1.37285e-15	1.9051e-15	1	1	0
PGM1	5236	broad.mit.edu	37	1	64100692	64100693	+	Splice_Site	INS	-	-	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:64100692_64100693insG	ENST00000371083.4	+	5	1295		c.e5+2		PGM1_ENST00000540265.1_Splice_Site|PGM1_ENST00000371084.3_Splice_Site	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1						cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGATGGGGTGGGTATAAGTG	0.545													31	94	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	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)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				7	795	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162425193	162425193	+	RNA	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:162425193delC	ENST00000605990.1	+	0	344																											GGGTTTCAAACTTCTTATATC	0.418													6	10	---	---	---	---					
MAP2	4133	broad.mit.edu	37	2	210559334	210559334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:210559334delG	ENST00000360351.4	+	7	2946	c.2440delG	c.(2440-2442)gcfs	p.G814fs	MAP2_ENST00000447185.1_Frame_Shift_Del_p.G810fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	814					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.G814S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGATCTGGCAGGCACAAGGTC	0.473													34	104	---	---	---	---					
TACC3	10460	broad.mit.edu	37	4	1730308	1730308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1730308delC	ENST00000313288.4	+	4	1285	c.1179delC	c.(1177-1179)gafs	p.D393fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	393						centrosome		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGAGAGGACCCCCCCATGC	0.612													12	42	---	---	---	---					
FSTL5	56884	broad.mit.edu	37	4	162376271	162376271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:162376271delG	ENST00000306100.5	-	15	2162	c.1726delC	c.(1726-1728)tgfs	p.L576fs	FSTL5_ENST00000379164.4_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.L566fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	576						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCACTGGCCAGGGTAATTACC	0.403													10	30	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176638682	176638682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:176638682delG	ENST00000439151.2	+	5	3327	c.3282delG	c.(3280-3282)atfs	p.M1094fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.M991fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1094					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCAGATAATGGGCCACTTAA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			33	35	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87928336	87928336	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:87928336delA	ENST00000369577.3	+	4	468	c.425delA	c.(424-426)ggfs	p.E142fs	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E142fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGCTGATGGAGAATGGCAGC	0.368													2	4	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226819	65226819	+	RNA	DEL	A	A	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:65226819delA	ENST00000442266.1	+	0	1167																											AATGGGGACCAAAAAAAAAAT	0.353													3	5	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100484691	100484691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:100484691delC	ENST00000388793.4	+	15	2062	c.1842delC	c.(1840-1842)tafs	p.Y614fs	SRRT_ENST00000457580.2_Frame_Shift_Del_p.Y615fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.Y615fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.Y614fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	615					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.Y615Y(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCTCCTTTACCTGCGCATCG	0.602													33	114	---	---	---	---					
LHFPL3	375612	broad.mit.edu	37	7	104377250	104377251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:104377250_104377251insT	ENST00000535008.1	+	4	698_699	c.574_575insT	c.(574-576)ggcfs	p.G192fs	LHFPL3_ENST00000424859.1_Frame_Shift_Ins_p.G178fs|LHFPL3_ENST00000543266.1_Frame_Shift_Ins_p.G192fs|LHFPL3_ENST00000401970.2_Frame_Shift_Ins_p.G178fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	178						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGCATACATCCTGGCTATTATT	0.470													11	21	---	---	---	---					
IGSF22	283284	broad.mit.edu	37	11	18741425	18741425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:18741425delG	ENST00000513874.1	-	7	673	c.534delC	c.(532-534)ccfs	p.P178fs	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	178	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCTTCTTGGGAGCAGGGG	0.488													44	58	---	---	---	---					
MAML2	84441	broad.mit.edu	37	11	95713064	95713065	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:95713064_95713065delGT	ENST00000524717.1	-	5	3802_3803	c.2518_2519delAC	c.(2518-2520)cfs	p.T840fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	840					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTAAAATGGTGTGTGTTGAA	0.421			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								17	19	---	---	---	---					
ACSM3	6296	broad.mit.edu	37	16	20793102	20793103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:20793102_20793103insC	ENST00000289416.5	+	7	1487_1488	c.1012_1013insC	c.(1012-1014)aacfs	p.N338fs	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000440284.2_Frame_Shift_Ins_p.N338fs|ACSM3_ENST00000450120.2_Frame_Shift_Ins_p.N330fs	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	338					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACAGAATGATATAACCAGGTAA	0.406													14	46	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579514	7579514	+	Frame_Shift_Del	DEL	G	G	-	rs144386518		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7579514delG	ENST00000420246.2	-	4	305	c.173delC	c.(172-174)cafs	p.P58fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	58	Interaction with HRMT1L2.		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTGGACCTGGGTCTTCAGT	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			48	156	---	---	---	---					
HS3ST3A1	9955	broad.mit.edu	37	17	13400051	13400052	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:13400051_13400052delGC	ENST00000284110.1	-	2	1480_1481	c.683_684delGC	c.(682-684)cfs	p.R228fs	HS3ST3A1_ENST00000578576.1_Frame_Shift_Del_p.R26fs	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCCGAGATGCGCGCGGGGGC	0.639													7	125	---	---	---	---					
ABCA10	10349	broad.mit.edu	37	17	67148622	67148622	+	Splice_Site	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:67148622delC	ENST00000269081.4	-	36	5046	c.4136_splice	c.e36-1	p.W1379_splice	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1379	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAAGTATCTGCCTAAAGATAA	0.403													15	51	---	---	---	---					
SUN5	140732	broad.mit.edu	37	20	31590391	31590392	+	Splice_Site	DEL	AC	AC	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:31590391_31590392delAC	ENST00000356173.3	-	3	304		c.e3+1		SUN5_ENST00000375523.3_Intron|SUN5_ENST00000375519.2_Splice_Site	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5						spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTATATACGTACACACACATCC	0.554													15	37	---	---	---	---