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
USP21	27005	broad.mit.edu	37	1	161131831	161131831	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:161131831C>T	ENST00000368002.3	+	4	981	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	USP21_ENST00000289865.8_Missense_Mutation_p.H202Y|USP21_ENST00000368001.1_Missense_Mutation_p.H202Y	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	202					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTTCCAGGCTCATCACACACT	0.498000													8	85					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609780	81609780	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:81609780G>A	ENST00000541158.2	+	11	1700	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	TSHR_ENST00000298171.2_Missense_Mutation_p.D460N|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	460					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGCCTTTGCGGATTTCTGCAT	0.547000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						17	113					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224762	26224762	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:26224762G>A	ENST00000056233.3	+	4	1703	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	482					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						GGATCAAAGTGATTCTGATTT	0.418000													8	122					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70598722	70598722	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:70598722G>A	ENST00000449580.1	+	8	1249	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	TAF1_ENST00000373790.4_Missense_Mutation_p.E400K|TAF1_ENST00000423759.1_Missense_Mutation_p.E421K|TAF1_ENST00000276072.3_Missense_Mutation_p.E421K			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	400	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTGGCTGATGAAAACTTCCT	0.453000													66	15					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561536	9561536	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:9561536G>A	ENST00000378429.3	-	5	792	c.246C>T	c.(244-246)atC>atT	p.I82I	PAK7_ENST00000378423.1_Silent_p.I82I|PAK7_ENST00000353224.5_Silent_p.I82I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	82	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCAGGCCGTTGATGGAGGTTT	0.458000													55	112					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31607379	31607379	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:31607379C>G	ENST00000404765.2	-	25	3580	c.3291G>C	c.(3289-3291)gtG>gtC	p.V1097V	BAG6_ENST00000439687.2_Intron|BAG6_ENST00000362049.6_Intron|BAG6_ENST00000375976.4_Silent_p.V1061V|BAG6_ENST00000211379.5_Silent_p.V1061V|BAG6_ENST00000375964.6_Silent_p.V1067V			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1067					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGCCCGGCTCACAGCCTCTG	0.662000													5	109					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973278	77973278	+	Splice_Site	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:77973278C>T	ENST00000354212.4	-	9	1479		c.e9-1		MAGI2_ENST00000522391.1_Splice_Site|MAGI2_ENST00000419488.1_Splice_Site|MAGI2_ENST00000536571.1_Splice_Site|MAGI2_ENST00000535697.1_Splice_Site	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2							cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGTGGTTTTTCTACATTGGCC	0.453000													4	40					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274779	114274779	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:114274779C>A	ENST00000357077.4	+	38	5058	c.5005C>A	c.(5005-5007)Ctg>Atg	p.L1669M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.L1636M|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1636					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.L1669L(1)		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)		ATGTGAGGCTCTGGCTGTTGG	0.473000													6	53					3.59834e-05	3.76078e-05	1	1	0
FBXO45	200933	broad.mit.edu	37	3	196311153	196311153	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:196311153G>A	ENST00000311630.6	+	3	1122	c.825G>A	c.(823-825)gtG>gtA	p.V275V	FBXO45_ENST00000440469.1_Silent_p.V96V	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	275	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACACAGAAGTGACTTTGGTTT	0.448000													21	20					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	29					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238428648	238428648	+	Silent	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:238428648C>A	ENST00000264605.3	+	6	945	c.651C>A	c.(649-651)gtC>gtA	p.V217V	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.V217V|MLPH_ENST00000409373.1_Intron|MLPH_ENST00000338530.4_Silent_p.V217V|MLPH_ENST00000410032.1_Silent_p.V217V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	217							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGTCCTCAGTCCCTGAGGCCA	0.617000													16	48					1.3612e-06	1.45653e-06	1	1	0
ZNF677	342926	broad.mit.edu	37	19	53740297	53740297	+	Silent	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:53740297A>G	ENST00000333952.4	-	5	1848	c.1683T>C	c.(1681-1683)caT>caC	p.H561H	ZNF677_ENST00000598513.1_Silent_p.H561H			Q86XU0	ZN677_HUMAN	zinc finger protein 677	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AACTTTTTTGATGATCTCCAA	0.308000													3	29					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850350	25850350	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:25850350C>G	ENST00000397060.4	-	9	1158	c.1049G>C	c.(1048-1050)gGa>gCa	p.G350A	SLC17A3_ENST00000360657.3_Missense_Mutation_p.G272A|SLC17A3_ENST00000361703.6_Missense_Mutation_p.G272A	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	272					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGATAGCCTCCCACCATGCC	0.403000													6	70					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15427049	15427049	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:15427049G>A	ENST00000342526.3	-	9	1108	c.939C>T	c.(937-939)ctC>ctT	p.L313L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	313					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTCTTCACTGAGACCAAGTC	0.438000													8	126					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306176	54306176	+	Missense_Mutation	SNP	T	T	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:54306176T>A	ENST00000545554.1	+	1	1076	c.1076T>A	c.(1075-1077)tTt>tAt	p.F359Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.F359Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.F359Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	359					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAATTGAATTTGCTCAGAGG	0.383000													20	35					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43379086	43379086	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:43379086C>T	ENST00000372861.3	+	2	731	c.600C>T	c.(598-600)atC>atT	p.I200I		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	200						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TCACCACCATCGGCTTCGGCG	0.652000													9	103					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25450578	25450578	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:25450578C>G	ENST00000329474.6	+	7	849	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	161					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGATTTTCTCAGATGTATGC	0.378000													7	29					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133210942	133210942	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:133210942C>A	ENST00000320574.5	-	43	5877	c.5834G>T	c.(5833-5835)gGa>gTa	p.G1945V	POLE_ENST00000535270.1_Missense_Mutation_p.G1918V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1945					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		atcctcTGCTCCCCCTGCTTT	0.557000								DNA polymerases (catalytic subunits)					6	76					5.9392e-07	6.39993e-07	1	1	0
CLEC3B	7123	broad.mit.edu	37	3	45077303	45077303	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:45077303G>A	ENST00000296130.4	+	3	676	c.496G>A	c.(496-498)Gat>Aat	p.D166N	CLEC3B_ENST00000428034.1_Missense_Mutation_p.D124N|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	166	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCGCAACCCGATGGCGGCAA	0.657000													8	112					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391101	169391101	+	Missense_Mutation	SNP	A	A	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:169391101A>C	ENST00000545005.1	-	4	1075	c.568T>G	c.(568-570)Tgt>Ggt	p.C190G	CCDC181_ENST00000367805.3_Missense_Mutation_p.C190G|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.C190G					coiled-coil domain containing 181																		TTGGAAATACATAATTGTGAC	0.358000													5	90					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001415	109001415	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:109001415C>A	ENST00000276659.5	-	3	772	c.152G>T	c.(151-153)gGg>gTg	p.G51V	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	51					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCGGCTACACCCATTGTCCTT	0.408000													11	66					5.50884e-06	5.83738e-06	1	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131704217	131704217	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:131704217C>T	ENST00000409359.1	+	4	4202	c.3004C>T	c.(3004-3006)Cgc>Tgc	p.R1002C	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000326016.5_Intron|ARHGEF4_ENST00000392953.3_Intron|ARHGEF4_ENST00000525839.1_Intron			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	0					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	p.?(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGGTGAGTTACGCGCCTCTCT	0.527000													14	49					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135303229	135303229	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:135303229C>T	ENST00000285968.6	+	28	3867	c.3841C>T	c.(3841-3843)Cat>Tat	p.H1281Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1281					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGCAAAACGTCATGCTCTGGA	0.428000													16	115					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670071	49670071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:49670071G>A	ENST00000561648.1	-	4	3045	c.2992C>T	c.(2992-2994)Cag>Tag	p.Q998*	ZNF423_ENST00000562871.1_Nonsense_Mutation_p.Q938*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.Q881*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.Q998*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.Q938*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.Q938*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.Q881*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	998					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCTCGCTCTGCAGGGGCATC	0.597000													5	17					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98579413	98579413	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:98579413G>C	ENST00000359863.4	+	58	8844	c.8635G>C	c.(8635-8637)Gag>Cag	p.E2879Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E2861Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E2861Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2879	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTCCGAAGGAGATGGCCTG	0.562000													7	10					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028929	76028929	+	Silent	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:76028929C>A	ENST00000319211.4	+	2	1144	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	293					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.I293I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATGTGTCTATCATTCGATGTC	0.483000													44	66					1.89013e-27	2.12361e-27	1	1	0
ATAD3C	219293	broad.mit.edu	37	1	1387480	1387480	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:1387480C>G	ENST00000378785.2	+	2	1125	c.130C>G	c.(130-132)Cag>Gag	p.Q44E		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	44							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAAGCACCATCAGACCTTCTT	0.567000													19	18					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56602978	56602978	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:56602978G>C	ENST00000407595.2	+	5	1982	c.1480G>C	c.(1480-1482)Gat>Cat	p.D494H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	494										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)			ATCAGGGGCTGATGGGAGTAA	0.408000													6	56					0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43685253	43685253	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:43685253G>A	ENST00000282058.6	+	2	204	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	HAUS1_ENST00000585518.1_Missense_Mutation_p.E42K	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	42					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TCACCTTTCAGAACGCAACAG	0.448000													5	73					0	0	1	0	0
PUSL1	126789	broad.mit.edu	37	1	1244651	1244651	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:1244651C>T	ENST00000379031.5	+	3	398	c.321C>T	c.(319-321)atC>atT	p.I107I	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	107					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCCGGCCATCAGGTGAGCCC	0.706000													4	14					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105481745	105481745	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:105481745G>A	ENST00000393127.2	+	2	467	c.21G>A	c.(19-21)caG>caA	p.Q7Q	GRIA4_ENST00000282499.5_Silent_p.Q7Q|GRIA4_ENST00000428631.2_Silent_p.Q7Q|GRIA4_ENST00000525187.1_Silent_p.Q7Q|GRIA4_ENST00000393125.2_Silent_p.Q7Q|GRIA4_ENST00000530497.1_Silent_p.Q7Q|GRIA4_ENST00000527669.1_Silent_p.Q7Q	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	7					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTTCCAGACAGATTGTCTTGT	0.502000													20	38					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882090	228882090	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:228882090C>G	ENST00000392056.3	-	7	3526	c.3480G>C	c.(3478-3480)ctG>ctC	p.L1160L	SPHKAP_ENST00000344657.5_Silent_p.L1160L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1160						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)		TGGCTGAGTTCAGAATGCTGC	0.507000													4	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641403	179641403	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:179641403C>A	ENST00000589042.1	-	28	5412	c.5188G>T	c.(5188-5190)Ggt>Tgt	p.G1730C	TTN_ENST00000342992.6_Missense_Mutation_p.G1730C|TTN_ENST00000342175.6_Missense_Mutation_p.G1684C|TTN_ENST00000360870.5_Missense_Mutation_p.G1730C|TTN_ENST00000359218.5_Missense_Mutation_p.G1684C|TTN_ENST00000591111.1_Missense_Mutation_p.G1730C|TTN_ENST00000460472.2_Missense_Mutation_p.G1684C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1482	Ig-like 8.			G -> S (in Ref. 1; CAA62188).			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)			GTTGGGTCACCAATGGGTGTT	0.468000													3	29					0.004672	0.00477194	1	1	0
CCT7	10574	broad.mit.edu	37	2	73478516	73478516	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:73478516G>C	ENST00000539919.1	+	12	1605	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	CCT7_ENST00000398422.2_Missense_Mutation_p.D252H|CCT7_ENST00000258091.5_Missense_Mutation_p.D456H|CCT7_ENST00000537131.1_Missense_Mutation_p.D356H|CCT7_ENST00000538797.1_Missense_Mutation_p.D328H|CCT7_ENST00000540468.1_Missense_Mutation_p.D369H	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	456					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCTGGCTTTGATGCCACAAA	0.542000													7	99					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063034	59063034	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:59063034C>A	ENST00000600118.1	-	5	1076	c.651G>T	c.(649-651)aaG>aaT	p.K217N	CHMP2A_ENST00000601220.1_Missense_Mutation_p.K217N|CHMP2A_ENST00000312547.2_Missense_Mutation_p.K217N			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	217	Interaction with VPS4B.|Interaction with VTA1.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCCGCAGGTTCTTAAGCCGTT	0.552000													30	82					5.77227e-19	6.40991e-19	1	1	0
PROS1	5627	broad.mit.edu	37	3	93624648	93624648	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:93624648G>A	ENST00000394236.3	-	6	897	c.581C>T	c.(580-582)tCa>tTa	p.S194L	PROS1_ENST00000407433.1_Missense_Mutation_p.S63L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	194	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCTTATTTGAAAGCATAAC	0.318000													15	48					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118627644	118627644	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:118627644C>T	ENST00000392533.3	-	14	1787	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	TAOK3_ENST00000537952.1_5'UTR|TAOK3_ENST00000419821.2_Missense_Mutation_p.E433K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	433					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAAAGCGCTCTCTGTTCCGG	0.597000													17	237					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29359653	29359653	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:29359653C>T	ENST00000343067.4	+	9	1388	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	EPB41_ENST00000356093.2_Silent_p.L421L|EPB41_ENST00000347529.3_Silent_p.L386L|EPB41_ENST00000373797.1_Silent_p.L421L|EPB41_ENST00000373800.3_Silent_p.L212L|EPB41_ENST00000398863.2_Silent_p.L421L|EPB41_ENST00000349460.4_Silent_p.L212L|EPB41_ENST00000373798.1_Silent_p.L421L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	421	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TAGTGGCCTTCTGGTTTACAA	0.413000													4	53					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142213	12142213	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:12142213G>C	ENST00000263035.4	+	9	1770	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	570					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.D570Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AATCAAGCTAGACTGGGCCAC	0.393000													149	175					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169438029	169438029	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:169438029G>A	ENST00000236137.5	-	4	1312	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S158L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	359					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TCCCCAAGTTGACCAGGATAT	0.388000													12	107					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94805473	94805473	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:94805473G>A	ENST00000453321.3	+	16	1681	c.1623G>A	c.(1621-1623)ttG>ttA	p.L541L	TMEM67_ENST00000409623.3_Silent_p.L460L	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	541					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CATCTCTTTTGAAGACAGCAG	0.363000													14	84					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772999	118772999	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:118772999C>T	ENST00000334801.3	-	6	2417	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	485	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ACTTCATGCTCCAGCGGGGGG	0.632000													16	245					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53441960	53441960	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:53441960C>T	ENST00000322213.4	-	2	395	c.268G>A	c.(268-270)Gag>Aag	p.E90K	SMC1A_ENST00000375340.6_Missense_Mutation_p.E90K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	90					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GTACGGTCCTCAGCACCCTCC	0.597000													3	28					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15260550	15260550	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:15260550G>T	ENST00000379554.3	+	11	1510	c.1464G>T	c.(1462-1464)caG>caT	p.Q488H	INSC_ENST00000528567.1_Missense_Mutation_p.Q441H|INSC_ENST00000424273.1_Missense_Mutation_p.Q399H|INSC_ENST00000525218.1_Missense_Mutation_p.Q399H|INSC_ENST00000530161.1_Missense_Mutation_p.Q441H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.Q441H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	488					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGTCCAGCAGAAAGCTGCAG	0.602000													5	55					0.014758	0.0149736	1	1	0
TLR9	54106	broad.mit.edu	37	3	52257729	52257729	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:52257729G>A	ENST00000494383.1	-	5	1062	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	TLR9_ENST00000360658.2_Silent_p.L201L|TLR9_ENST00000597542.1_Silent_p.L225L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACAGGTGGGTGAGGTTGCCCA	0.587000													6	76					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130653526	130653526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:130653526C>T	ENST00000510168.1	+	5	845	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	ATP2C1_ENST00000422190.2_Nonsense_Mutation_p.Q99*|ATP2C1_ENST00000513801.1_Nonsense_Mutation_p.Q83*|ATP2C1_ENST00000393221.4_Nonsense_Mutation_p.Q133*|ATP2C1_ENST00000504381.1_Nonsense_Mutation_p.Q44*|ATP2C1_ENST00000428331.2_Nonsense_Mutation_p.Q99*|ATP2C1_ENST00000505330.1_Nonsense_Mutation_p.Q83*|ATP2C1_ENST00000508532.1_Nonsense_Mutation_p.Q99*|ATP2C1_ENST00000328560.8_Nonsense_Mutation_p.Q99*|ATP2C1_ENST00000533801.2_Nonsense_Mutation_p.Q94*|ATP2C1_ENST00000359644.3_Nonsense_Mutation_p.Q99*|ATP2C1_ENST00000504948.1_Nonsense_Mutation_p.Q83*|ATP2C1_ENST00000507488.2_Nonsense_Mutation_p.Q83*			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	99					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTTAATGCATCAGTTTGATGA	0.318000									Hailey-Hailey disease				12	34					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088079	57088079	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:57088079G>A	ENST00000532437.1	-	2	513	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P68S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	68	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.P68T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGACCCCGGGGAGGCCGAGGC	0.677000													8	29					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41901305	41901305	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:41901305C>T	ENST00000398393.1	-	8	1013	c.753G>A	c.(751-753)gaG>gaA	p.E251E	MPP3_ENST00000398389.4_Silent_p.E226E			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	226	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ATACCTTGCTCTCCTTTAAGC	0.567000													13	151					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195000075	195000075	+	Silent	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:195000075T>C	ENST00000326793.6	-	23	2549	c.2319A>G	c.(2317-2319)caA>caG	p.Q773Q	ACAP2_ENST00000472860.1_5'UTR	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	773					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCTGTGAATCTTGCTGGAAAC	0.308000													4	48					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48593529	48593529	+	Missense_Mutation	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:48593529A>G	ENST00000342988.3	+	10	1818	c.1280A>G	c.(1279-1281)cAt>cGt	p.H427R	SMAD4_ENST00000398417.2_Missense_Mutation_p.H427R|SMAD4_ENST00000588745.1_Missense_Mutation_p.H331R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	427	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGCTGTTCATAAGATCTAC	0.393000													9	67					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511592	58511592	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:58511592C>T	ENST00000588627.1	-	0	1765																											CGGCTGGTGTCAGATGAACCC	0.547000													5	14					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842130	154842130	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:154842130G>T	ENST00000271915.4	-	1	626	c.311C>A	c.(310-312)tCt>tAt	p.S104Y		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGCGGTGGGAGAGGAGTGCAG	0.647000													11	12					1.58986e-06	1.69645e-06	1	1	0
RET	5979	broad.mit.edu	37	10	43610065	43610065	+	Missense_Mutation	SNP	G	G	A	rs3026759		TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:43610065G>A	ENST00000355710.3	+	11	2249	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	RET_ENST00000340058.5_Missense_Mutation_p.E673K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	673					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTCCTCAGCTGAGATGACCTT	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	52					0	0	1	0	0
PGA3	643834	broad.mit.edu	37	11	60971712	60971712	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:60971712G>C	ENST00000325558.6	+	2	375	c.190G>C	c.(190-192)Gat>Cat	p.D64H		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CACCCTGGTAGATGAACAGCC	0.607000													68	118					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720732	89720732	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:89720732C>G	ENST00000371953.3	+	8	2240	c.883C>G	c.(883-885)Cta>Gta	p.L295V	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	295	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.S294fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.L295fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAATGGAAGTCTATGTGATCA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	30					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23586840	23586840	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:23586840C>T	ENST00000206513.5	-	2	1226	c.702G>A	c.(700-702)caG>caA	p.Q234Q		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CCAGCACCTTCTGCTGCGTCT	0.617000													15	183					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23376983	23376983	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:23376983G>A	ENST00000400181.4	+	4	785	c.681G>A	c.(679-681)caG>caA	p.Q227Q	KDM1A_ENST00000542151.1_Silent_p.Q227Q|KDM1A_ENST00000356634.3_Silent_p.Q207Q|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	207	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AACAGACCCAGAAGGTTTTTC	0.423000													42	63					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165578958	165578958	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:165578958G>A	ENST00000375458.2	-	5	957	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	COBLL1_ENST00000194871.6_Missense_Mutation_p.R312C|COBLL1_ENST00000342193.4_Missense_Mutation_p.R246C|COBLL1_ENST00000392717.2_Missense_Mutation_p.R284C|COBLL1_ENST00000409184.3_Missense_Mutation_p.R284C|COBLL1_ENST00000491126.2_Intron	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	284										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTCTTACTGCGTTGAAAAAAA	0.274000													7	31					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71026397	71026397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:71026397G>T	ENST00000354624.5	+	18	2771	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	880					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AACTGTGAAGGAACTAGCCCC	0.428000													6	56					0.0215528	0.0218097	1	1	0
BRAT1	221927	broad.mit.edu	37	7	2583486	2583486	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:2583486C>T	ENST00000340611.4	-	5	797	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	181					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGCTGCCCCTCGGCTCCACCT	0.657000													62	62					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62209572	62209572	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:62209572G>A	ENST00000261517.5	-	60	8096	c.8023C>T	c.(8023-8025)Ctt>Ttt	p.L2675F	VPS13C_ENST00000395898.3_Missense_Mutation_p.L2632F|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2675F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2632F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2675					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATGGGAGAAGATTCCGCAAA	0.363000													10	33					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115580961	115580961	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:115580961G>A	ENST00000265440.7	-	8	868	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	TFEC_ENST00000320239.7_Missense_Mutation_p.H201Y|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.H163Y	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGCAGACCATGAGTACGAGCC	0.408000													64	67					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974123	85974123	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:85974123G>A	ENST00000372117.3	+	17	2429	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	CDHR1_ENST00000440770.2_Missense_Mutation_p.E480K|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	776	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTCCCAATGAGAACTGTAA	0.617000													6	67					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14689623	14689623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:14689623G>A	ENST00000240617.5	-	5	1232	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	194					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCAGGAACTGAATCTGGAAC	0.438000													62	103					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3526167	3526167	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:3526167C>G	ENST00000441788.2	+	4	481	c.245C>G	c.(244-246)tCa>tGa	p.S82*	FZR1_ENST00000395095.3_Nonsense_Mutation_p.S82*|FZR1_ENST00000313639.8_Nonsense_Mutation_p.S82*	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	82					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCCACCTCAGACAACGGC	0.662000													34	57					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96650245	96650245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:96650245C>A	ENST00000222598.4	-	3	1146	c.673G>T	c.(673-675)Gag>Tag	p.E225*	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	225					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCCTGGGGCTCCCACACCGCT	0.637000													6	62					0.00307968	0.00315822	1	1	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369250	20369250	+	RNA	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:20369250G>T	ENST00000593655.1	-	0	199																											AATGTTAGAAGTTAACTACCC	0.403000													6	116					0.00116845	0.00120471	1	1	0
EMC3	55831	broad.mit.edu	37	3	10049005	10049005	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:10049005C>T	ENST00000383808.2	-	0	993																											GCAGCCCCTTCAGGTCCCGTC	0.587000													7	34					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1878691	1878691	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:1878691C>T	ENST00000505790.1	-	6	1408	c.952G>A	c.(952-954)Gag>Aag	p.E318K	IRX4_ENST00000513692.1_Missense_Mutation_p.E318K|IRX4_ENST00000231357.2_Missense_Mutation_p.E318K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	318					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCCAGGTCCTCGTCCAGAGCA	0.771000													5	5					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891694	11891694	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:11891694G>A	ENST00000357901.4	+	4	1157	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF441_ENST00000454339.2_Missense_Mutation_p.R285Q	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGGTTTTCGAAGACACATG	0.423000													56	77					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416329	54416329	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:54416329C>A	ENST00000296733.1	-	10	1439	c.1265G>T	c.(1264-1266)gGa>gTa	p.G422V	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.G422V|CDC20B_ENST00000322374.6_Intron	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	422										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATCCTTCATTCCTCCTCCAAT	0.483000													12	146					0.00185496	0.00190996	1	1	0
USP24	23358	broad.mit.edu	37	1	55604640	55604640	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:55604640C>T	ENST00000294383.6	-	25	2793	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K	USP24_ENST00000407756.1_Missense_Mutation_p.E772K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	932					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACATAGCGCTCTGCCAGAAGC	0.373000													7	12					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753957	10753957	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:10753957G>C	ENST00000335757.5	+	22	2393	c.2017G>C	c.(2017-2019)Gag>Cag	p.E673Q	SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E671Q			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	673					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTCCACAGTGGAGGACCTGGA	0.592000													4	14					0	0	1	0	0
MIR3654	100500804	broad.mit.edu	37	11	62346135	62346135	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:62346135G>C	ENST00000496634.2	-	5	1103	c.1058C>G	c.(1057-1059)cCt>cGt	p.P353R	TUT1_ENST00000308436.7_Missense_Mutation_p.P391R|TUT1_ENST00000476907.1_Missense_Mutation_p.P353R																NS(1)	1						ATACACCCCAGGGACACAGCC	0.607000													10	96					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155152176	155152176	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:155152176G>C	ENST00000367178.3	+	19	2837	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	SCAF8_ENST00000417268.1_Missense_Mutation_p.G754A|SCAF8_ENST00000367186.4_Missense_Mutation_p.G820A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	754	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTGCCAGCTGGAAATGTTTTT	0.448000													3	30					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55148300	55148300	+	Missense_Mutation	SNP	A	A	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:55148300A>T	ENST00000396331.1	+	16	2281	c.1924A>T	c.(1924-1926)Agc>Tgc	p.S642C	LILRB1_ENST00000396315.1_Missense_Mutation_p.S644C|LILRB1_ENST00000396332.4_Missense_Mutation_p.S643C|LILRB1_ENST00000324602.7_Missense_Mutation_p.S644C|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.S693C|LILRB1_ENST00000396327.3_Missense_Mutation_p.S643C|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.S626C|LILRB1_ENST00000434867.2_Missense_Mutation_p.S642C|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.S642C|LILRB1_ENST00000396317.1_Missense_Mutation_p.S626C	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	642					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTGTGCCCAGCATCTACGC	0.652000										HNSCC(37;0.09)			6	84					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176857941	176857941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:176857941C>T	ENST00000355472.5	+	2	289	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	GRK6_ENST00000528793.1_Nonsense_Mutation_p.Q41*|GRK6_ENST00000393576.3_Nonsense_Mutation_p.Q41*|GRK6_ENST00000355958.5_Nonsense_Mutation_p.Q41*|GRK6_ENST00000507633.1_Nonsense_Mutation_p.Q41*	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	41	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TCACATCAGCCAGTGCGAAGA	0.642000													4	55					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696487	7696487	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:7696487G>T	ENST00000572933.1	+	48	8993	c.7533G>T	c.(7531-7533)tgG>tgT	p.W2511C	DNAH2_ENST00000389173.2_Missense_Mutation_p.W2511C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2511	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCTTCTGGTATGACCGTA	0.522000													13	78					2.27111e-07	2.46117e-07	1	1	0
ZNF483	158399	broad.mit.edu	37	9	114304066	114304066	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:114304066G>A	ENST00000309235.5	+	6	1009	c.851G>A	c.(850-852)aGa>aAa	p.R284K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	284					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCAAAAGGAAGAGTCGCACAA	0.438000													61	105					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180034352	180034352	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:180034352G>A	ENST00000367607.3	+	27	5930	c.5512G>A	c.(5512-5514)Gaa>Aaa	p.E1838K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1838						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						CTCCAGCAGTGAAACTAGCAG	0.388000													13	22					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778552	31778552	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:31778552G>A	ENST00000375654.4	-	2	1387	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	HSPA1L_ENST00000417199.3_Missense_Mutation_p.P400S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	400					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGGGACAGGGGAGCCACGTCC	0.602000													73	68					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808688	24808688	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24808688C>A	ENST00000216274.5	-	2	354	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	46	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ACCGCCACATCGTAGCCCCAC	0.612000													18	346					2.94398e-08	3.21774e-08	1	1	0
DTX2	113878	broad.mit.edu	37	7	76111940	76111940	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:76111940C>T	ENST00000324432.5	+	5	894	c.384C>T	c.(382-384)gtC>gtT	p.V128V	DTX2_ENST00000446820.2_Silent_p.V128V|DTX2_ENST00000413936.2_Silent_p.V128V|DTX2_ENST00000307569.8_Silent_p.V128V|DTX2_ENST00000446600.1_Silent_p.V37V|DTX2_ENST00000430490.2_Silent_p.V128V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	128	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AAGCCAGCGTCTGTGACTATC	0.627000													28	24					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45296678	45296678	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:45296678C>T	ENST00000447098.2	-	6	666	c.655G>A	c.(655-657)Gag>Aag	p.E219K	PTCH2_ENST00000372192.3_Missense_Mutation_p.E219K	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	219					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCAGCTGCTCTGGATCCAGG	0.632000									Basal Cell Nevus syndrome				6	38					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377922	125377922	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:125377922G>A	ENST00000297913.2	+	1	975	c.906G>A	c.(904-906)atG>atA	p.M302I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GAGGCTTCATGAAATGGATGA	0.453000													24	44					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778491	31778491	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:31778491G>C	ENST00000375654.4	-	2	1448	c.1259C>G	c.(1258-1260)tCc>tGc	p.S420C	HSPA1L_ENST00000417199.3_Missense_Mutation_p.S420C	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	420					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGATGGTGGAGTTGCGCTT	0.597000													101	105					0	0	1	0	0
POP7	10248	broad.mit.edu	37	7	100304612	100304612	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:100304612G>A	ENST00000303151.4	+	2	421	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	53					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCGCTGCCAGAAGCTGCTGG	0.607000													26	214					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728615	50728615	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:50728615G>C	ENST00000449103.1	-	3	539	c.399C>G	c.(397-399)ttC>ttG	p.F133L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F133L			O15031	PLXB2_HUMAN	plexin B2	133	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCTCGTAGAACAGGCGGA	0.662000													3	23					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814451	23814451	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:23814451C>G	ENST00000264867.2	-	10	2057	c.1938G>C	c.(1936-1938)aaG>aaC	p.K646N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	646					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATTCTTCCCTCTTCAGCCTCT	0.463000													16	148					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523425	2523425	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:2523425C>G	ENST00000288709.6	-	22	2322	c.2082G>C	c.(2080-2082)caG>caC	p.Q694H	MMEL1_ENST00000378412.3_Missense_Mutation_p.Q703H|MMEL1_ENST00000502556.1_Missense_Mutation_p.Q546H	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	703					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCCGGGCAGCTGCTGGTCCT	0.627000													9	80					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60776047	60776047	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:60776047G>C	ENST00000370823.3	+	7	1153	c.1135G>C	c.(1135-1137)Gag>Cag	p.E379Q	MTG2_ENST00000536470.1_Missense_Mutation_p.E151Q|MTG2_ENST00000436421.2_Missense_Mutation_p.E221Q	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		CGAGAACCTGGAGCAGCTGCT	0.647000													4	33					0	0	1	0	0
TRAV41	28640	broad.mit.edu	37	14	22788878	22788878	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:22788878C>T	ENST00000390468.1	+	0	91																											GCAGAGTCCTCAGAACCTGAC	0.423000													30	52					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944110	32944110	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:32944110G>C	ENST00000395289.2	+	6	2295	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	BRD2_ENST00000374825.4_Missense_Mutation_p.E232Q|BRD2_ENST00000443797.2_Missense_Mutation_p.E112Q|BRD2_ENST00000449085.2_Missense_Mutation_p.E185Q|BRD2_ENST00000374831.4_Missense_Mutation_p.E232Q|BRD2_ENST00000395287.1_Missense_Mutation_p.E232Q			P25440	BRD2_HUMAN	bromodomain containing 2	232					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCCTCCACCTGAGATACCTAC	0.532000													36	48					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48696295	48696295	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:48696295C>G	ENST00000236495.5	+	6	653	c.603C>G	c.(601-603)ctC>ctG	p.L201L	SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Silent_p.L197L|SLC5A9_ENST00000438567.2_Silent_p.L176L	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	176						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGAGCCCTCTTCATCCAGA	0.587000													5	58					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638752	176638752	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:176638752G>A	ENST00000439151.2	+	5	3397	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	NSD1_ENST00000354179.4_Missense_Mutation_p.D849N|NSD1_ENST00000361032.4_Missense_Mutation_p.D1015N|NSD1_ENST00000347982.4_Missense_Mutation_p.D849N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1118					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)		TAAGCAATCTGATCCTGGTAA	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			7	74					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6909303	6909303	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:6909303C>G	ENST00000251535.6	+	10	1428	c.1375C>G	c.(1375-1377)Ctc>Gtc	p.L459V	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	459	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCAGGTGCTCTCTATGCCCA	0.642000													14	86					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7685263	7685263	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:7685263C>G	ENST00000358368.4	-	16	2201	c.2164G>C	c.(2164-2166)Gaa>Caa	p.E722Q	XAB2_ENST00000534844.1_Missense_Mutation_p.E719Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	722					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCAGCATTTCCTTGATGGTG	0.637000								Direct reversal of damage;Nucleotide excision repair (NER)					6	58					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089709	57089709	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:57089709C>G	ENST00000330619.8	+	6	2598	c.1912C>G	c.(1912-1914)Ctg>Gtg	p.L638V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L638V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L638V(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATCCCTTACTCTGCATCAGAG	0.413000													3	44					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109814236	109814236	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:109814236C>T	ENST00000271332.3	+	28	7879	c.7818C>T	c.(7816-7818)ttC>ttT	p.F2606F	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2606					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTTCATCTTCCTCTCCTATG	0.612000													9	115					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632088	206632088	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:206632088C>A	ENST00000414007.1	+	18	2207	c.2207C>A	c.(2206-2208)tCc>tAc	p.S736Y	SRGAP2_ENST00000419187.2_Missense_Mutation_p.S194Y			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	876	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGCCGCCCATCCTCCCAGCCC	0.612000													8	30					0.0381472	0.0383985	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72866946	72866946	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:72866946C>G	ENST00000261180.4	+	5	1531	c.1435C>G	c.(1435-1437)Cct>Gct	p.P479A		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	479					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTACCTCTATCCTGGCTGGAA	0.433000													11	148					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991336	152991336	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:152991336G>A	ENST00000218104.3	+	1	1014	c.615G>A	c.(613-615)gcG>gcA	p.A205A	ABCD1_ENST00000370129.4_Silent_p.A20A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	205	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCTTTGCGGCCTCTGTGG	0.647000													20	60					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151138	13151138	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:13151138C>T	ENST00000378748.3	+	4	378	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	OPTN_ENST00000378752.3_Missense_Mutation_p.L6F|OPTN_ENST00000378764.2_Missense_Mutation_p.L6F|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000263036.5_Missense_Mutation_p.L6F|OPTN_ENST00000378747.3_Missense_Mutation_p.L6F|OPTN_ENST00000378757.2_Missense_Mutation_p.L6F	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	6					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCATCAACCTCTCAGCTGCCT	0.582000													20	208					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64574323	64574323	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:64574323G>A	ENST00000357395.3	+	66	12906	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	SYNE2_ENST00000344113.4_Missense_Mutation_p.E4203K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4203K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4218K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E837K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E588K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4203					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAACAGAAGAGGTAAGTCC	0.463000													13	228					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198953595	198953595	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:198953595C>G	ENST00000428675.1	+	3	3127	c.2729C>G	c.(2728-2730)tCt>tGt	p.S910C	PLCL1_ENST00000437704.2_Missense_Mutation_p.S812C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	910					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCAATCGTGTCTATTAAGGAA	0.463000													28	315					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933128	83933128	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:83933128G>A	ENST00000345382.2	-	4	960	c.875C>T	c.(874-876)tCc>tTc	p.S292F	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S285F	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	292					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTGGAACTGGAAGTTAAGAA	0.453000													31	29					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4303819	4303819	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:4303819C>T	ENST00000337872.4	+	3	377	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.H86Y	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	86	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTACACTTCTCATCTAGATCT	0.383000													25	55					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635155	34635155	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:34635155G>C	ENST00000342136.4	+	9	1224	c.898G>C	c.(898-900)Gat>Cat	p.D300H	IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.D300H|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000413881.1_3'UTR|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	300					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGAAGCCATGGATATGGTGGA	0.403000													5	132					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64148364	64148364	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:64148364G>C	ENST00000409558.4	-	13	1963	c.1809C>G	c.(1807-1809)gtC>gtG	p.V603V	VPS54_ENST00000354504.3_Silent_p.V462V|VPS54_ENST00000272322.4_Silent_p.V615V	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAGAAATTTGACAGCTCGAT	0.328000													4	35					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65786339	65786339	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:65786339C>T	ENST00000312106.5	-	10	2297	c.2160G>A	c.(2158-2160)ctG>ctA	p.L720L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	720					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.L720L(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAGCCGCTTCAGCATGGTGC	0.587000													28	49					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700911	17700911	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:17700911C>G	ENST00000353383.1	+	3	5118	c.4649C>G	c.(4648-4650)tCt>tGt	p.S1550C	RAI1_ENST00000261641.6_Missense_Mutation_p.S1550C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1550						cytoplasm|nucleus	zinc ion binding	p.S1550F(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AACACCACCTCTTCACCCTGT	0.612000													13	142					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25474174	25474174	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:25474174C>T	ENST00000453082.2	+	0	1370				SNORD115-32_ENST00000364079.1_RNA	NR_003343.1																						AAATCATGTTCAATAGGATTA	0.488000													27	131					0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826291	83826291	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:83826291C>A	ENST00000299633.4	-	4	938	c.335G>T	c.(334-336)gGa>gTa	p.G112V		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		112					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCCACCTTCTCCCTCAGTTTC	0.353000													24	18					7.33628e-21	8.19432e-21	1	1	0
RFK	55312	broad.mit.edu	37	9	79003561	79003561	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:79003561G>A	ENST00000376736.1	-	3	579	c.246C>T	c.(244-246)atC>atT	p.I82I	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	82					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	AGGTATGCATGATATGTGTTT	0.363000													6	41					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192779	132192779	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:132192779G>C	ENST00000359827.3	-	2	1636	c.674C>G	c.(673-675)tCg>tGg	p.S225W	PLXNA4_ENST00000423507.2_Missense_Mutation_p.S225W|PLXNA4_ENST00000321063.4_Missense_Mutation_p.S225W|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S225W			Q9HCM2	PLXA4_HUMAN	plexin A4	225	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTAATCATCGAGGCCACGAA	0.478000													34	56					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24772316	24772316	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24772316G>A	ENST00000267425.3	+	6	1273	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	NOP9_ENST00000396802.3_Missense_Mutation_p.E394K	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCCTGTCTTGGAAGCTGTATT	0.552000													6	134					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119228517	119228517	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:119228517C>T	ENST00000260187.2	-	10	1745	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	USP2_ENST00000455332.2_Missense_Mutation_p.R241Q|USP2_ENST00000525735.1_Missense_Mutation_p.R275Q	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	484	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.R484L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTTTATACACCGTTTTCTGCC	0.502000													49	525					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203816718	203816718	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:203816718G>A	ENST00000545588.1	+	12	5276	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	ZC3H11A_ENST00000367214.1_Silent_p.L483L|ZC3H11A_ENST00000367210.1_Silent_p.L483L|ZC3H11A_ENST00000367212.3_Silent_p.L483L|ZC3H11A_ENST00000332127.4_Silent_p.L483L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	483							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAGGCACTGAGGGTGCAGC	0.547000													25	64					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2644149	2644149	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:2644149C>T	ENST00000380843.4	-	4	310	c.280G>A	c.(280-282)Gag>Aag	p.E94K	IDH3B_ENST00000380851.5_Missense_Mutation_p.E94K|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	94					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	AGCTTCTCCTCAGATGCCATA	0.517000													29	11					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332584	31332584	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:31332584C>T	ENST00000544665.3	+	15	1804	c.1733C>T	c.(1732-1734)tCt>tTt	p.S578F	ITGAM_ENST00000287497.8_Missense_Mutation_p.S577F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	577					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCCAAGCTCTCTCCCAGGCTC	0.547000													59	57					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342974	94342974	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:94342974C>G	ENST00000436063.2	-	2	574	c.517G>C	c.(517-519)Gat>Cat	p.D173H	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TGGCTTGGATCTGTCAGAGAT	0.398000													12	91					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905099	129905099	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:129905099C>G	ENST00000368654.3	-	13	5380	c.5005G>C	c.(5005-5007)Gat>Cat	p.D1669H	MKI67_ENST00000368653.3_Missense_Mutation_p.D1309H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1669	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTACCATCTCCTGTTGGC	0.502000													20	80					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381168	35381168	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:35381168G>T	ENST00000378495.3	+	18	2422	c.2200G>T	c.(2200-2202)Gag>Tag	p.E734*	UNC13B_ENST00000378496.4_Nonsense_Mutation_p.E734*|UNC13B_ENST00000396787.1_Nonsense_Mutation_p.E746*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	734					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAAGGGGGAGGAGAAAGTAGC	0.527000													16	39					4.14922e-12	4.5546e-12	1	1	0
ZNF124	7678	broad.mit.edu	37	1	247319961	247319961	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:247319961C>G	ENST00000340684.6	-	4	915	c.777G>C	c.(775-777)caG>caC	p.Q259H	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.Q321H|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGCCACATTTCTGACATTCAT	0.388000													25	38					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491563	100491563	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:100491563C>T	ENST00000302913.4	-	2	429	c.291G>A	c.(289-291)caG>caA	p.Q97Q	ACHE_ENST00000419336.2_Silent_p.Q97Q|ACHE_ENST00000241069.5_Silent_p.Q97Q|ACHE_ENST00000428317.1_Silent_p.Q97Q|ACHE_ENST00000411582.1_Silent_p.Q97Q|ACHE_ENST00000412389.1_Silent_p.Q97Q	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	97					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGCAGACACTCTGGAAGGTTG	0.597000													8	99					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71215569	71215569	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:71215569C>G	ENST00000554752.2	-	5	1302	c.1303G>C	c.(1303-1305)Gac>Cac	p.D435H	MAP3K9_ENST00000381250.4_Missense_Mutation_p.D435H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.D172H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D435H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D129H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	435	Leucine-zipper 1.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.D435Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAGTTGGTCAAACATCTCC	0.423000													42	66					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507706	145507706	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:145507706G>T	ENST00000330165.8	+	1	109	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.D14Y|RP11-315I20.1_ENST00000601726.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGGGCGAAGATTTCGCCAT	0.562000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	17					0.000442599	0.000458814	1	1	0
PRPSAP2	5636	broad.mit.edu	37	17	18785972	18785972	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:18785972C>T	ENST00000268835.2	+	7	787	c.504C>T	c.(502-504)ttC>ttT	p.F168F	PRPSAP2_ENST00000419071.2_Silent_p.F128F|PRPSAP2_ENST00000542013.1_Silent_p.F168F|PRPSAP2_ENST00000536323.1_Silent_p.F82F	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	168					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCTCCCTTCTTATTACAGT	0.328000													63	139					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560692	44560692	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:44560692G>A	ENST00000289547.4	-	13	3034	c.2979C>T	c.(2977-2979)tgC>tgT	p.C993C	NPC1L1_ENST00000381160.3_Silent_p.C993C|NPC1L1_ENST00000546276.1_Silent_p.C947C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	993					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGATGCTCATGCAGTTCTTTA	0.567000													84	110					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68117441	68117441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:68117441C>A	ENST00000261783.3	+	8	1049	c.869C>A	c.(868-870)tCa>tAa	p.S290*	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	290					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	GGGTTGCTATCAGCACTGGAT	0.498000													35	52					1.57351e-24	1.76271e-24	1	1	0
SART1	9092	broad.mit.edu	37	11	65729273	65729273	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:65729273C>T	ENST00000312397.5	+	1	114	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	8					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		p.R8G(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAAGAAGCATCGCGGAGAGAA	0.687000													19	26					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42787414	42787414	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:42787414G>A	ENST00000432191.2	+	7	598	c.526G>A	c.(526-528)Gag>Aag	p.E176K	PPHLN1_ENST00000358314.7_Missense_Mutation_p.E231K|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E183K|PPHLN1_ENST00000395568.2_Missense_Mutation_p.E231K|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E238K|PPHLN1_ENST00000256678.8_Missense_Mutation_p.E111K|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E249K|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E164K|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E212K|PPHLN1_ENST00000337898.6_Missense_Mutation_p.E176K	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	231	Ser-rich.				keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GGAACTTGCTGAGGCTGCAAG	0.373000													37	49					0	0	1	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99581017	99581017	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:99581017C>T	ENST00000425474.1	+	0	338					NR_036679.1																						AGTATTACAACGACGGTAACG	0.547000													6	23					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077797	95077797	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:95077797C>T	ENST00000545558.1	-	7	1602	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	NOL8_ENST00000542053.1_Missense_Mutation_p.M302I|NOL8_ENST00000358855.4_Missense_Mutation_p.M302I|NOL8_ENST00000442668.2_Missense_Mutation_p.M370I|NOL8_ENST00000535387.1_Missense_Mutation_p.M370I			Q76FK4	NOL8_HUMAN	nucleolar protein 8	370					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATCATTTCTCATAATATCAT	0.338000													12	13					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106876995	106876995	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:106876995G>C	ENST00000286398.7	+	13	1844	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	519	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAATAGAAATTGTGTG	0.358000													3	47					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526672	23526672	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:23526672G>A	ENST00000296682.3	+	11	1657	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	492					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R492K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGGAAAAAGAATAATGGAA	0.448000										HNSCC(3;0.000094)			35	41					0	0	1	0	0
NUDT9	53343	broad.mit.edu	37	4	88379119	88379119	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:88379119G>C	ENST00000473942.1	+	8	971	c.849G>C	c.(847-849)gaG>gaC	p.E283D	NUDT9_ENST00000302174.4_Missense_Mutation_p.E333D	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	333	Nudix hydrolase.					mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTGTGGCTGAGAAACGAGATG	0.473000													17	169					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173819496	173819496	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:173819496G>T	ENST00000361951.4	+	13	1950	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	408					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	AACGCCAATAGAAACTGGAAT	0.338000													5	33					0.00116845	0.00120471	1	1	0
ZBP1	81030	broad.mit.edu	37	20	56190025	56190025	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:56190025C>T	ENST00000340462.4	-	3	631	c.351G>A	c.(349-351)gtG>gtA	p.V117V	ZBP1_ENST00000541799.1_Silent_p.V140V|ZBP1_ENST00000395822.3_Silent_p.V65V|ZBP1_ENST00000343535.4_Silent_p.V140V|ZBP1_ENST00000371173.3_Silent_p.V140V			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	140						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGTCTCGGTTCACATCTTTTG	0.557000													8	116					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24658939	24658939	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24658939G>A	ENST00000561419.1	-	2	112	c.113C>T	c.(112-114)tCt>tTt	p.S38F	TM9SF1_ENST00000524835.1_Silent_p.L414L|TM9SF1_ENST00000528669.1_Silent_p.L484L|TM9SF1_ENST00000530611.1_Silent_p.L710L|TM9SF1_ENST00000556387.1_Silent_p.L710L|TM9SF1_ENST00000261789.4_Silent_p.L501L																							AGACAAAGAAGAGGATGCCGT	0.517000													48	148					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036279	88036279	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:88036279C>A	ENST00000307808.6	+	11	2693	c.2273C>A	c.(2272-2274)cCa>cAa	p.P758Q	AFF1_ENST00000544085.1_Missense_Mutation_p.P396Q|AFF1_ENST00000395146.4_Missense_Mutation_p.P765Q	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	758						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACTCCTCCCCCACAAAGCTTG	0.597000													25	241					2.24059e-21	2.50632e-21	1	1	0
BCR	613	broad.mit.edu	37	22	23637301	23637301	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:23637301G>A	ENST00000305877.8	+	16	3722	c.2971G>A	c.(2971-2973)Ggc>Agc	p.G991S	BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	991	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CAAGGAGGACGGCGAGAGCAC	0.582000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								7	95					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70498671	70498671	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:70498671G>A	ENST00000260128.4	+	7	1209	c.492G>A	c.(490-492)aaG>aaA	p.K164K	SULF1_ENST00000402687.4_Silent_p.K164K|SULF1_ENST00000419716.3_Silent_p.K164K|SULF1_ENST00000458141.2_Silent_p.K164K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	164					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)			GATTAATCAAGAATTCTCGCT	0.388000													15	112					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186050380	186050380	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:186050380G>T	ENST00000271588.4	+	56	8870	c.8641G>T	c.(8641-8643)Gag>Tag	p.E2881*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E2881*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2881	Ig-like C2-type 27.				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						TCTCCCTGAAGAGGTCACCGT	0.473000													28	145					5.60225e-13	6.15844e-13	1	1	0
USP13	8975	broad.mit.edu	37	3	179460039	179460039	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:179460039G>A	ENST00000263966.3	+	12	1906	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.E414K	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	479					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGGAAGAACGCATTCA	0.493000													23	24					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39816940	39816940	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:39816940G>A	ENST00000553728.1	+	26	3796	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	CTAGE5_ENST00000396158.2_Missense_Mutation_p.E665K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E660K|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E617K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E660K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E631K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E580K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E585K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E631K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E648K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E631K																							TTCAGAAATGGAATCCAGTAG	0.313000													3	40					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94230041	94230041	+	Missense_Mutation	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:94230041A>G	ENST00000544253.1	+	2	300	c.182A>G	c.(181-183)gAg>gGg	p.E61G	ANKRD49_ENST00000544612.1_Missense_Mutation_p.E61G|ANKRD49_ENST00000540349.1_Missense_Mutation_p.E61G|ANKRD49_ENST00000302755.4_Missense_Mutation_p.E61G			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	61					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATGAAGAGTGGTATCGA	0.378000													19	99					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206590657	206590657	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:206590657C>T	ENST00000360409.3	+	6	1632	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	NRP2_ENST00000357118.4_Silent_p.L281L|NRP2_ENST00000355117.4_Silent_p.L281L|NRP2_ENST00000412873.2_Silent_p.L281L|NRP2_ENST00000417189.1_Silent_p.L281L|NRP2_ENST00000272849.3_Silent_p.L281L|NRP2_ENST00000540841.1_Silent_p.L281L|NRP2_ENST00000540178.1_Silent_p.L281L|NRP2_ENST00000357785.5_Silent_p.L281L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	281	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAATGTTCCTCTGGGCATGGA	0.537000													6	30					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310282	24310282	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:24310282G>C	ENST00000357002.4	+	4	1595	c.1480G>C	c.(1480-1482)Gaa>Caa	p.E494Q	ZNF254_ENST00000342944.6_Missense_Mutation_p.E409Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	494					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CAAATGTGAAGAATGTGGCAA	0.403000													19	51					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810845	106810845	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:106810845G>A	ENST00000526355.2	-	4	1015	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.H183Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.H183Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCATTCTCATGAAAGCATATA	0.358000													10	77					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56210759	56210759	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:56210759C>A	ENST00000285947.2	+	5	1164	c.778C>A	c.(778-780)Ctt>Att	p.L260I	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Missense_Mutation_p.L260I	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	260																	GAAGCAGTATCTTCCAAACAT	0.353000													22	43					2.44723e-14	2.70577e-14	1	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3386060	3386060	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:3386060G>A	ENST00000378378.4	+	6	1330	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E21K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E21K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	309	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTGGTGGAGGAGTTCCTGCA	0.617000													4	73					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													10	21					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129630051	129630051	+	RNA	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:129630051G>C	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AAAAACAAGAGAAATCTTTAC	0.418000													22	58					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565197	58565197	+	Silent	SNP	C	C	T	rs142150648		TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:58565197C>T	ENST00000282326.1	+	6	1252	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	335					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTCCGTCCTCACTGAGCATG	0.652000													7	65					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039208	31039208	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:31039208C>T	ENST00000355537.3	+	4	2829	c.2682C>T	c.(2680-2682)agC>agT	p.S894S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					CTTCCAAAAGCACCCACTTCT	0.527000													16	178					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530605	42530605	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:42530605G>C	ENST00000282030.5	+	4	1596	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	434						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCATGCCAGAGAAAGCCTT	0.468000									Schinzel-Giedion syndrome				36	116					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354001	122354001	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:122354001C>G	ENST00000483793.1	+	8	1162	c.1122C>G	c.(1120-1122)gtC>gtG	p.V374V	PARP15_ENST00000493645.1_Silent_p.V266V|PARP15_ENST00000464300.2_Silent_p.V569V|PARP15_ENST00000310366.4_Silent_p.V335V|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	547	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TGCCATATGTCAATCAGCACG	0.403000													20	37					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234262	155234262	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:155234262G>T	ENST00000368361.4	-	10	1458	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	CLK2_ENST00000361168.5_Missense_Mutation_p.F380L|CLK2_ENST00000536801.1_Missense_Mutation_p.F381L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.F379L			P49760	CLK2_HUMAN	CDC-like kinase 2	381	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTTACCTGGAAGAGGGTGA	0.493000								Other conserved DNA damage response genes					16	19					6.31663e-08	6.86473e-08	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	62					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832852	79832852	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:79832852G>T	ENST00000335016.5	+	16	3317	c.3151G>T	c.(3151-3153)Gat>Tat	p.D1051Y	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1051						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGCACTGACTGATGGGAAAGA	0.517000													42	371					1.96642e-18	2.18047e-18	1	1	0
CCDC91	55297	broad.mit.edu	37	12	28460636	28460636	+	Missense_Mutation	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:28460636A>G	ENST00000545336.1	+	9	949	c.530A>G	c.(529-531)aAa>aGa	p.K177R	CCDC91_ENST00000381259.1_Missense_Mutation_p.K177R|CCDC91_ENST00000381256.1_Missense_Mutation_p.K177R|CCDC91_ENST00000539107.1_Missense_Mutation_p.K177R|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.K147R			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	177					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CTAAAAGAAAAAGAGCAAGAG	0.308000													26	37					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5929981	5929981	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:5929981C>G	ENST00000380094.5	-	2	907	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	ANKRD16_ENST00000191063.8_Missense_Mutation_p.E122Q|ANKRD16_ENST00000380092.4_Missense_Mutation_p.E122Q	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	122										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TCCACCAGCTCCTGGATCACC	0.537000													22	175					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384681	8384681	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:8384681G>C	ENST00000471889.1	+	2	677	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	SLC45A1_ENST00000377479.2_Missense_Mutation_p.E132Q|SLC45A1_ENST00000289877.8_Missense_Mutation_p.E98Q			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	98					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGCATCGAGTTCAGCTA	0.627000													7	13					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41835046	41835046	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:41835046C>G	ENST00000430347.2	-	3	255	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_5'UTR|MTRF1_ENST00000379480.4_5'UTR			O75570	RF1M_HUMAN	mitochondrial translational release factor 1	0					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CGATTCATCTCAGCATCTGAA	0.353000													20	30					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3207607	3207607	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:3207607G>C	ENST00000380989.2	-	5	569	c.531C>G	c.(529-531)ttC>ttG	p.F177L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.F145L|PITRM1_ENST00000224949.4_Missense_Mutation_p.F177L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	145					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGACATACCAGAAATCCAGCT	0.423000													19	26					0	0	1	0	0
TRAJ19	28736	broad.mit.edu	37	14	22994242	22994242	+	RNA	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:22994242G>C	ENST00000390518.1	+	0	10																											GGCTATCAAAGATTTTACAAT	0.408000													15	242					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9820553	9820553	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:9820553C>G	ENST00000323816.4	-	15	1405	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	GAS7_ENST00000540214.1_Missense_Mutation_p.E180Q|GAS7_ENST00000585266.1_Missense_Mutation_p.E415Q|GAS7_ENST00000579158.1_Missense_Mutation_p.E411Q|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.E335Q|GAS7_ENST00000396115.2_Missense_Mutation_p.E180Q|GAS7_ENST00000542249.1_Missense_Mutation_p.E411Q|GAS7_ENST00000437099.2_Missense_Mutation_p.E411Q|GAS7_ENST00000432992.2_Missense_Mutation_p.E475Q			O60861	GAS7_HUMAN	growth arrest-specific 7	0					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ATCTAGATCTCCATGTCCACA	0.657000			T	MLL	AML*								80	16					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080037	18080037	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:18080037C>G	ENST00000539092.1	+	5	1172	c.481C>G	c.(481-483)Cta>Gta	p.L161V	NAT1_ENST00000535084.1_Missense_Mutation_p.L161V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.L223V|NAT1_ENST00000517492.1_Missense_Mutation_p.L161V|NAT1_ENST00000307719.4_Missense_Mutation_p.L161V|NAT1_ENST00000518029.1_Missense_Mutation_p.L161V|NAT1_ENST00000541942.1_Missense_Mutation_p.L161V|NAT1_ENST00000520546.1_Missense_Mutation_p.L161V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	161					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)		ATTCTGGTATCTAGACCAAAT	0.428000													15	65					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121601	46121601	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:46121601G>A	ENST00000374366.3	-	8	1913	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.S557F	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	557							zinc ion binding										AGGCTCTTTGGAAGCCTTGTT	0.438000													38	31					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41813280	41813280	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:41813280C>G	ENST00000304330.4	-	22	3220	c.3104G>C	c.(3103-3105)aGg>aCg	p.R1035T	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1035	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCGAGGGACCCTGCTGCTTCC	0.607000													3	49					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155646428	155646428	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:155646428C>T	ENST00000368340.5	-	4	757	c.649G>A	c.(649-651)Gag>Aag	p.E217K	YY1AP1_ENST00000438245.2_Missense_Mutation_p.E79K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E79K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E145K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E79K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E79K|YY1AP1_ENST00000535662.1_5'UTR|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E79K|YY1AP1_ENST00000405763.3_Missense_Mutation_p.E217K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E217K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E68K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E68K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E68K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E68K	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTAACCTTCTCTACCTCCTTC	0.458000													64	122					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823772	35823772	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:35823772G>C	ENST00000085219.5	+	3	423	c.357G>C	c.(355-357)ctG>ctC	p.L119L	CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Silent_p.L119L|CD22_ENST00000544992.2_Silent_p.L119L|CD22_ENST00000341773.6_Silent_p.L119L|CD22_ENST00000536635.2_Silent_p.L119L|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000419549.2_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	119	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCTGGGGCTGAGGATGGAGT	0.542000													32	46					0	0	1	0	0
CCL21	6366	broad.mit.edu	37	9	34709657	34709657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:34709657G>A	ENST00000259607.2	-	3	268	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	CCL21_ENST00000378792.1_Nonsense_Mutation_p.Q71*	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	71					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGCTCTGCCTGAGAGCGCTTG	0.622000													8	84					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152527479	152527479	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:152527479G>T	ENST00000367255.5	-	126	23444	c.22843C>A	c.(22843-22845)Ctg>Atg	p.L7615M	SYNE1_ENST00000341594.5_Missense_Mutation_p.L7227M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7615M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7544M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7544M|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2139M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7615					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)		TGTTGCCGCAGAAACACTTTT	0.483000										HNSCC(10;0.0054)			32	6					4.3181e-19	4.80208e-19	1	1	0
RBM8A	9939	broad.mit.edu	37	1	145508540	145508540	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:145508540G>A	ENST00000330165.8	+	4	340	c.271G>A	c.(271-273)Gac>Aac	p.D91N	RBM8A_ENST00000369307.3_Missense_Mutation_p.D90N	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A		RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGACATACACGACAAATTCGC	0.453000													33	58					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866575	224866575	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:224866575G>A	ENST00000409840.3	-	3	703	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	SERPINE2_ENST00000258405.4_Silent_p.L15L|SERPINE2_ENST00000409304.1_Silent_p.L15L|SERPINE2_ENST00000447280.2_Silent_p.L27L			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	15					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATGGAAGGCAGCGTCACAGAG	0.478000													8	76					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154746077	154746077	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:154746077G>A	ENST00000404141.1	-	16	2863	c.2709C>T	c.(2707-2709)ctC>ctT	p.L903L	PAXIP1_ENST00000397192.1_Silent_p.L903L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	903	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGCTGGCAATGAGGTGTGTGC	0.502000													5	63					0	0	1	0	0
UBE2A	7319	broad.mit.edu	37	X	118708871	118708871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:118708871G>T	ENST00000371558.2	+	2	226	c.52G>T	c.(52-54)Gag>Tag	p.E18*	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Nonsense_Mutation_p.E18*	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	18					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						AAGGTTGCAGGAGGATCCTCC	0.697000								Rad6 pathway					13	48					7.93312e-07	8.51251e-07	1	1	0
ANO8	57719	broad.mit.edu	37	19	17442156	17442156	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:17442156C>T	ENST00000159087.4	-	6	809	c.651G>A	c.(649-651)ctG>ctA	p.L217L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	217						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGAGGCGGTTCAGAATACGCT	0.642000													10	93					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25254119	25254119	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:25254119G>A	ENST00000354454.3	+	15	1578	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	LRMP_ENST00000548766.1_Missense_Mutation_p.R250Q|LRMP_ENST00000547044.1_Missense_Mutation_p.R250Q	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	306					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TAGGAAAGCCGGGTTAGTAAA	0.373000													7	59					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78447207	78447207	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:78447207G>A	ENST00000306773.4	-	3	847	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	230	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGGGAATGTGAGCTGGAACT	0.537000													58	115					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139232080	139232080	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:139232080G>C	ENST00000541337.1	-	6	1512	c.1283C>G	c.(1282-1284)tCt>tGt	p.S428C	NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.S494C|NRG2_ENST00000289409.4_Missense_Mutation_p.S488C|NRG2_ENST00000545385.1_Missense_Mutation_p.S496C|NRG2_ENST00000358522.3_Missense_Mutation_p.S496C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.S291C|NRG2_ENST00000289422.7_Missense_Mutation_p.S502C	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	494					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTCCCAGAGAAGGTGGT	0.542000													46	53					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36113894	36113894	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:36113894G>A	ENST00000203166.5	+	19	1926	c.1901G>A	c.(1900-1902)tGa>tAa	p.*634*	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	0					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTGTGCAGCTGAAGAGAGGGT	0.637000													35	58					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144654813	144654813	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:144654813C>T	ENST00000398882.3	-	1	328	c.72G>A	c.(70-72)ctG>ctA	p.L24L		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		TTCCTTCAGTCAGTGCTGTCA	0.706000													3	12					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554414	52554414	+	Splice_Site	SNP	A	A	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:52554414A>T	ENST00000321725.6	+	53	5575		c.e53-1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTCTCCTTGCAGGGTGAGCTC	0.607000													6	51					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306898	46306898	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:46306898C>T	ENST00000357422.2	+	4	792	c.249C>T	c.(247-249)ttC>ttT	p.F83F	CCR3_ENST00000541018.1_Silent_p.F83F|CCR3_ENST00000395940.2_Silent_p.F83F|CCR3_ENST00000395942.2_Silent_p.F83F|CCR3_ENST00000545097.1_Silent_p.F104F			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	83					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACCTGCTCTTCCTCGTCACCC	0.502000													26	192					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6439066	6439066	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:6439066C>G	ENST00000162749.2	-	9	1234	c.935G>C	c.(934-936)aGa>aCa	p.R312T	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R269T	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	312					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TGCCACCTCTCTGCGGGGAGC	0.657000													4	8					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1778565	1778565	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:1778565G>C	ENST00000236671.2	-	5	825	c.693C>G	c.(691-693)ttC>ttG	p.F231L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S102C	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	231					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCTCAGGTAGAAGGAGAAGA	0.637000													14	22					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792052	792052	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:792052C>T	ENST00000320230.5	-	10	1316	c.835G>A	c.(835-837)Gag>Aag	p.E279K	SLC25A22_ENST00000531214.1_Missense_Mutation_p.E279K	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	279						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GAGGGGCCCTCGTGCCGCAGG	0.692000													8	7					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985114	985114	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:985114G>T	ENST00000361661.2	-	3	755	c.378C>A	c.(376-378)ttC>ttA	p.F126L	SLC26A1_ENST00000398520.2_Missense_Mutation_p.F126L|SLC26A1_ENST00000398516.2_Missense_Mutation_p.F126L|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	126						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AAAGCAGGCTGAAGATGCCCA	0.637000													9	195					1.08611e-07	1.17867e-07	1	1	0
ADCY2	108	broad.mit.edu	37	5	7802383	7802383	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:7802383C>T	ENST00000338316.4	+	21	2770	c.2681C>T	c.(2680-2682)cCg>cTg	p.P894L	ADCY2_ENST00000537121.1_Missense_Mutation_p.P714L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	894					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCTCCATTCCGGATTTCAAA	0.473000													5	33					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176795193	176795193	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:176795193G>A	ENST00000408923.3	+	8	963	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	259					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTTGCGCCGAGAGTCTCAGGG	0.632000													6	65					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15545835	15545835	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:15545835G>A	ENST00000428417.1	+	3	804	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TMEM51_ENST00000376014.3_Missense_Mutation_p.E120K|TMEM51_ENST00000400796.3_Missense_Mutation_p.E120K|TMEM51_ENST00000434578.2_Silent_p.K118K|TMEM51_ENST00000376008.2_Missense_Mutation_p.E120K	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	120						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GGAGGAAGAAGAGGAGGATGA	0.517000													22	45					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648629	24648629	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24648629G>C	ENST00000311457.3	+	17	1875	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	REC8_ENST00000559919.1_Missense_Mutation_p.E426Q			O95072	REC8_HUMAN	REC8 meiotic recombination protein	427	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCTGAAGAGGAGAAGTCCCG	0.617000													15	371					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241929606	241929606	+	Splice_Site	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:241929606T>C	ENST00000437684.2	+	15	2211	c.2004T>C	c.(2002-2004)aaT>aaC	p.N668N	WDR64_ENST00000366552.2_Silent_p.N668N			B1ANS9	WDR64_HUMAN	WD repeat domain 64	668										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAACCTTAAATGGTGTGATCA	0.363000													7	34					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990717	990717	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:990717G>A	ENST00000190165.2	+	2	1169	c.1131G>A	c.(1129-1131)gcG>gcA	p.A377A		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	377					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A377A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATACTTTGGCGAGAAGCCAGT	0.592000													17	49					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102471479	102471479	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:102471479C>A	ENST00000360184.4	+	26	5503	c.5339C>A	c.(5338-5340)tCt>tAt	p.S1780Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1780	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCTTGCACTCTGTGCTGAGC	0.582000													8	31					0.0381472	0.0383985	1	1	0
MCAM	4162	broad.mit.edu	37	11	119185941	119185941	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:119185941C>T	ENST00000264036.4	-	2	114	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MCAM_ENST00000530144.2_5'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	34	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCCACCAGCTCAGGCGCAGGC	0.682000													22	21					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96370446	96370446	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:96370446C>G	ENST00000261208.3	-	19	2061	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	HAL_ENST00000541929.1_Missense_Mutation_p.E357Q|HAL_ENST00000538703.1_Missense_Mutation_p.E565Q	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	565					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CGTAGAAACTCTATGCCCTGG	0.473000													38	48					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046564	94046564	+	Missense_Mutation	SNP	A	A	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:94046564A>T	ENST00000553484.1	+	19	2657	c.2503A>T	c.(2503-2505)Ata>Tta	p.I835L	UNC79_ENST00000256339.4_Missense_Mutation_p.I658L|UNC79_ENST00000393151.2_Missense_Mutation_p.I835L|UNC79_ENST00000555664.1_Missense_Mutation_p.I835L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	835						integral to membrane		p.I654_H670del(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATTTCTATTATAAACAATGT	0.438000													8	107					0	0	1	0	0
RNASE13	440163	broad.mit.edu	37	14	21502226	21502226	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:21502226C>T	ENST00000382951.3	-	2	359	c.222G>A	c.(220-222)gtG>gtA	p.V74V	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	74						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGGCATGTATCACATAATGGA	0.458000													7	155					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165746606	165746606	+	Missense_Mutation	SNP	T	T	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:165746606T>A	ENST00000366882.1	-	23	2402	c.2248A>T	c.(2248-2250)Agt>Tgt	p.S750C	PDE10A_ENST00000354448.4_Missense_Mutation_p.S750C|PDE10A_ENST00000539869.2_Missense_Mutation_p.S760C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	750					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCCACTGACTGAGATTATCC	0.478000													48	14					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	206491	206491	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:206491C>T	ENST00000356347.3	+	0	93					NR_027481.1																						GCCACAGCCTCAGCCTCCGTC	0.622000													12	13					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130982618	130982618	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:130982618C>G	ENST00000341179.7	+	6	939	c.847C>G	c.(847-849)Cag>Gag	p.Q283E	DNM1_ENST00000393594.3_Missense_Mutation_p.Q283E|DNM1_ENST00000372923.3_Missense_Mutation_p.Q283E|DNM1_ENST00000486160.1_Missense_Mutation_p.Q283E|DNM1_ENST00000475805.1_Missense_Mutation_p.Q283E	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	283					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTCCTCAATCAGGTAGGCGA	0.542000													34	38					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48370928	48370928	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:48370928C>T	ENST00000380518.3	-	47	3448	c.3284G>A	c.(3283-3285)gGc>gAc	p.G1095D	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1026D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1095	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCCATGGGGCCTTGTGCACC	0.627000													4	23					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672162	45672162	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:45672162G>A	ENST00000308064.2	-	4	982	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	104					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGCCCTGGGTGAAGCGGGGGA	0.642000													10	99					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122750907	122750907	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:122750907C>G	ENST00000267199.4	-	1	161	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	VPS33A_ENST00000451053.2_Missense_Mutation_p.E17Q|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E17Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	17					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGCACCGCCTCGCGCAACACG	0.677000													10	79					0	0	1	0	0
SPRTN	83932	broad.mit.edu	37	1	231488506	231488506	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:231488506C>T	ENST00000295050.7	+	5	1205	c.869C>T	c.(868-870)tCa>tTa	p.S290L	SPRTN_ENST00000391858.4_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3			SprT-like N-terminal domain																		CAAAACCATTCAGCAAATGCT	0.358000													13	30					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60987919	60987919	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:60987919G>A	ENST00000252998.1	-	12	1869	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CATCCAGTTCGTCGGACTCTG	0.657000													6	123					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733606	92733606	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:92733606G>A	ENST00000379958.2	-	3	2074	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	602						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACATTGGCTTGAAATTTCATC	0.343000													42	48					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146651	156146651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:156146651C>T	ENST00000368285.3	+	15	2416	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	SEMA4A_ENST00000368284.1_Nonsense_Mutation_p.Q585*|SEMA4A_ENST00000368282.1_Nonsense_Mutation_p.Q717*|SEMA4A_ENST00000355014.2_Nonsense_Mutation_p.Q717*|SEMA4A_ENST00000368286.2_Nonsense_Mutation_p.Q585*	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	717					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGGCAAGGTTCAGGGCTGTGA	0.592000													6	98					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21312246	21312246	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:21312246C>G	ENST00000377191.3	+	7	719	c.624C>G	c.(622-624)atC>atG	p.I208M	XRN2_ENST00000539513.1_Missense_Mutation_p.I154M|XRN2_ENST00000430571.2_Missense_Mutation_p.I132M	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	208					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AACATAAAATCATGGATTACA	0.303000													18	24					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3389987	3389987	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:3389987G>A	ENST00000378378.4	+	8	1611	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ARHGEF16_ENST00000413250.2_Silent_p.L106L|ARHGEF16_ENST00000378371.2_Silent_p.L114L|ARHGEF16_ENST00000378373.1_Silent_p.L114L	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	402	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAGAGGCCCTGAGAGAGATTG	0.647000													15	106					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740882	19740882	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:19740882C>G	ENST00000203556.4	-	21	2940	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q	GMIP_ENST00000587238.1_Missense_Mutation_p.E909Q|GMIP_ENST00000445806.2_Missense_Mutation_p.E906Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	935					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGGTAATCTCAAAATGCTTG	0.682000													8	17					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641014	29641014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:29641014C>A	ENST00000376883.1	-	6	1225	c.814G>T	c.(814-816)Gag>Tag	p.E272*	ZFP57_ENST00000488757.1_Nonsense_Mutation_p.E292*|ZFP57_ENST00000376881.3_Nonsense_Mutation_p.E272*			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	208					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAAGTACACTCCTGGTTTCCA	0.547000													125	128					6.69922e-78	7.56012e-78	1	1	0
SDHAP3	728609	broad.mit.edu	37	5	1593385	1593385	+	RNA	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:1593385C>G	ENST00000436493.2	-	0	240																											CCTGGCCATTCACGTGCCTCA	0.597000													17	35					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85662940	85662940	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:85662940C>G	ENST00000322366.6	-	38	6615	c.6208G>C	c.(6208-6210)Gat>Cat	p.D2070H	WDFY3_ENST00000295888.4_Missense_Mutation_p.D2070H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2070						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTATAAAATCTATAAGAAGT	0.353000													21	186					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726567	3726567	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:3726567G>A	ENST00000254963.2	+	7	709	c.564G>A	c.(562-564)ctG>ctA	p.L188L	HSPA12B_ENST00000542646.1_Silent_p.L22L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	188							ATP binding	p.L188L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCAGGAGCTGAGGGAGCAGA	0.597000													37	40					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348265	150348265	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:150348265C>T	ENST00000218316.3	+	2	279	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	70					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCAGTCTCTCTGTGGCCG	0.488000													226	35					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62664345	62664345	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:62664345G>A	ENST00000535781.1	+	20	2816	c.2705G>A	c.(2704-2706)tGa>tAa	p.*902*	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	0					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AACACCTTCTGATTGAGCGGT	0.587000													28	27					0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25281916	25281916	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:25281916C>T	ENST00000323944.5	-	6	1083	c.632G>A	c.(631-633)tGa>tAa	p.*211*	STXBP6_ENST00000548369.1_Silent_p.*109*|STXBP6_ENST00000396700.1_Silent_p.*211*|STXBP6_ENST00000546511.1_Silent_p.*211*|STXBP6_ENST00000419632.2_Silent_p.*211*|STXBP6_ENST00000548724.1_Silent_p.*211*|STXBP6_ENST00000550887.1_Silent_p.*211*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	0					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GGCAGTTTCTCAACATTTGTG	0.418000													6	97					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236716897	236716897	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:236716897C>T	ENST00000366582.3	-	43	6335	c.6221G>A	c.(6220-6222)aGa>aAa	p.R2074K	HEATR1_ENST00000366581.2_Missense_Mutation_p.R1993K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2074					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGAGGAGTCTCTCGTCTTTAG	0.498000													4	53					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53115486	53115486	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:53115486G>A	ENST00000375442.4	+	6	2044	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	638	Asp-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGAGGGCATTGAGGAAGGTGA	0.478000													5	28					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626311	44626311	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:44626311G>C	ENST00000576629.1	+	10	4301	c.3806G>C	c.(3805-3807)aGa>aCa	p.R1269T	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1269T|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1269						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCACAGGTGAGAGACAGATGG	0.488000													6	181					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518203	108518203	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:108518203G>C	ENST00000375915.2	-	1	880	c.742C>G	c.(742-744)Ctg>Gtg	p.L248V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	248						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACCACATCCAGACTGCAGTTC	0.502000													47	111					0	0	1	0	0
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114917013	114917013	+	Splice_Site	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:114917013C>T	ENST00000333314.3	-	4	788		c.e4-1		TICAM2_ENST00000408996.4_Intron|TICAM2_ENST00000427199.2_Splice_Site|TMED7-TICAM2_ENST00000282382.4_Intron			Q86XR7	TCAM2_HUMAN							I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity										TCTTTTCAATCTAAAAGAAGT	0.274000													14	10					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217955532	217955532	+	Missense_Mutation	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:217955532T>C	ENST00000366933.4	+	8	795	c.740T>C	c.(739-741)aTc>aCc	p.I247T	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	247						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCCGAGATATCACCGAAGTA	0.453000													19	41					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816858	77816858	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:77816858G>A	ENST00000334306.2	-	1	2144	c.2145C>T	c.(2143-2145)acC>acT	p.T715T		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	715																	TTTCCCCAGAGGTATTACTGG	0.512000													42	690					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113744301	113744301	+	Splice_Site	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:113744301G>A	ENST00000552014.1	-	15	2006	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	SLC8B1_ENST00000546737.1_Splice_Site_p.F441F|SLC8B1_ENST00000202831.3_Splice_Site_p.F497F|SLC8B1_ENST00000550047.1_Splice_Site_p.F12F|SLC8B1_ENST00000549069.1_Splice_Site_p.F56F					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	497																	AAAGGATACTGAAGATGATGC	0.587000													6	56					0	0	1	0	0
ORAI3	93129	broad.mit.edu	37	16	30964571	30964571	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:30964571C>T	ENST00000318663.4	+	2	518	c.294C>T	c.(292-294)ttC>ttT	p.F98F	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Silent_p.F98F	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	98						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						TGGTGGCCTTCAGTGCCTGCA	0.602000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	30					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12475473	12475473	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:12475473G>A	ENST00000397026.2	+	9	1664	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	PPARG_ENST00000287820.6_Silent_p.L449L|PPARG_ENST00000397015.2_Silent_p.L421L|PPARG_ENST00000309576.6_Silent_p.L421L|PPARG_ENST00000397010.2_Silent_p.L421L|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Silent_p.L421L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	449	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGCTCCAGCTGAAGCTGAACC	0.522000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						82	52					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879068	76879068	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:76879068C>T	ENST00000356260.5	-	18	1628	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SDAD1_ENST00000395711.4_Missense_Mutation_p.E467K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	504					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCCTCCTCCTCACTGAGACTG	0.413000													75	236					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185892709	185892709	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:185892709C>G	ENST00000271588.4	+	8	1438	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	HMCN1_ENST00000367492.2_Silent_p.L403L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	403					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						CTTTCTTTCTCAAAGTAACAG	0.348000													34	45					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886766	57886766	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:57886766C>A	ENST00000302610.1	-	1	150	c.151G>T	c.(151-153)Gta>Tta	p.V51L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTGACATCTACTTGGATTAAC	0.483000													10	82					4.68919e-08	5.10333e-08	1	1	0
NEURL4	84461	broad.mit.edu	37	17	7230210	7230210	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:7230210G>A	ENST00000399464.2	-	4	927	c.912C>T	c.(910-912)agC>agT	p.S304S	NEURL4_ENST00000315614.7_Silent_p.S304S|NEURL4_ENST00000570460.1_Silent_p.S282S	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCAGCACCGCTAGATCCCA	0.557000													13	103					0	0	1	0	0
CEP19	84984	broad.mit.edu	37	3	196434499	196434499	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:196434499C>T	ENST00000409690.3	-	3	849	c.427G>A	c.(427-429)Gac>Aac	p.D143N	CEP19_ENST00000399942.4_Missense_Mutation_p.D104N	NM_032898.3	NP_116287.2	Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	139						centriole|spindle pole				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ACCTCAATGTCATAAACAAAA	0.403000													20	64					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379792	88379792	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:88379792G>C	ENST00000298699.2	-	11	1141	c.961C>G	c.(961-963)Cac>Gac	p.H321D	C12orf50_ENST00000550553.1_Missense_Mutation_p.H282D	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	321										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTATTGCGGTGATAACTCATT	0.453000													16	130					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34218894	34218894	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:34218894C>T	ENST00000317619.3	-	13	1318	c.924G>A	c.(922-924)ctG>ctA	p.L308L	CPNE1_ENST00000317677.5_Silent_p.L313L|CPNE1_ENST00000397445.1_Silent_p.L308L|CPNE1_ENST00000397446.1_Silent_p.L308L|CPNE1_ENST00000352393.4_Silent_p.L308L|CPNE1_ENST00000397443.1_Silent_p.L308L|CPNE1_ENST00000397442.1_Silent_p.L308L			Q99829	CPNE1_HUMAN	copine I	308	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGTTGGACTCAGGTAGTGTA	0.582000													20	104					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125880392	125880392	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:125880392C>T	ENST00000392693.3	-	8	1523	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	CDON_ENST00000263577.7_Missense_Mutation_p.E466K	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	466	Ig-like C2-type 5.				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)		TTCAAGCCCTCAGGTCTTGAT	0.498000													12	125					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28979931	28979931	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:28979931C>T	ENST00000282397.4	-	11	1788	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	FLT1_ENST00000541932.1_Missense_Mutation_p.E513K|FLT1_ENST00000539099.1_Missense_Mutation_p.E513K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	513	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTCTTTCCTTCTATTATTGCC	0.398000													5	86					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30257656	30257656	+	Silent	SNP	C	C	T	rs145160879		TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:30257656C>T	ENST00000303775.5	-	1	37	c.12G>A	c.(10-12)gaG>gaA	p.E4E	N6AMT1_ENST00000351429.3_Silent_p.E4E	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	4					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TAGCGAAGTTCTCCCCTGCCA	0.672000													13	26					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91522417	91522417	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:91522417C>T	ENST00000361188.5	-	8	2289	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	PRC1_ENST00000442656.2_Missense_Mutation_p.E319K|PRC1_ENST00000361919.3_Missense_Mutation_p.E360K|PRC1_ENST00000394249.3_Missense_Mutation_p.E360K|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	360	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTCCAGGTTTCTTCCCACTTC	0.413000													5	55					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282305	23282305	+	Silent	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:23282305C>A	ENST00000397532.3	-	2	828	c.303G>T	c.(301-303)ggG>ggT	p.G101G	SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.G101G|SLC7A7_ENST00000397528.4_Silent_p.G101G|SLC7A7_ENST00000555702.1_Silent_p.G101G|SLC7A7_ENST00000397529.2_Silent_p.G101G			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	101					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CATAGCTGGCCCCAGATTTCT	0.557000													18	332					3.32936e-07	3.60288e-07	1	1	0
MEF2B	100271849	broad.mit.edu	37	19	19257570	19257570	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:19257570C>A	ENST00000602424.2	-	8	1382	c.656G>T	c.(655-657)cGa>cTa	p.R219L	MEF2B_ENST00000410050.1_Missense_Mutation_p.R219L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R222L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R219L|MEF2B_ENST00000409447.2_Intron|MEF2B_ENST00000424583.2_Missense_Mutation_p.R219L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R236L|MEF2B_ENST00000162023.5_Missense_Mutation_p.R219L	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TAGTCCCCCTCGGGGCCCAGC	0.662000													10	56					0.00829132	0.00844609	1	1	0
XKRX	402415	broad.mit.edu	37	X	100169834	100169834	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:100169834G>A	ENST00000328526.5	-	3	1447	c.882C>T	c.(880-882)ctC>ctT	p.L294L	XKRX_ENST00000372956.2_Silent_p.L281L|XKRX_ENST00000468904.1_3'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	281						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AGGGCTCAAAGAGGATGATCA	0.502000													13	51					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424856	47424856	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:47424856C>G	ENST00000404338.3	+	1	2924	c.2924C>G	c.(2923-2925)tCa>tGa	p.S975*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	975					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CGGGCAGGATCACCGCTCTGC	0.493000													17	38					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63998555	63998555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:63998555G>T	ENST00000260116.4	-	1	57	c.26C>A	c.(25-27)tCg>tAg	p.S9*	TTPA_ENST00000521138.1_5'UTR	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	9					lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CGGCCCCGCCGAGGGCTGGGA	0.796000													12	0					3.27435e-08	3.57372e-08	1	1	0
RNASE3	6037	broad.mit.edu	37	14	21360169	21360169	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:21360169C>T	ENST00000304639.3	+	2	382	c.324C>T	c.(322-324)ctC>ctT	p.L108L		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	108					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TGCCTTTACTCCACTGTGACC	0.433000													45	131					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022774	12022774	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:12022774G>A	ENST00000396373.4	+	5	1154	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	294						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGCTCTCCGAGGACGGGCT	0.587000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								17	139					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507721	145507721	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:145507721G>A	ENST00000330165.8	+	1	124	c.55G>A	c.(55-57)Gag>Aag	p.E19K	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.E19K|RP11-315I20.1_ENST00000601726.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCATGGATGAGGATGGGGA	0.552000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	14					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441510	37441510	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:37441510G>C	ENST00000415168.1	+	5	1639	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	ZNF568_ENST00000333987.7_Missense_Mutation_p.Q485H|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTTATTCAGATGTCAAACC	0.398000													5	106					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22055207	22055207	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:22055207G>C	ENST00000308271.9	-	11	1954	c.1306C>G	c.(1306-1308)Ctt>Gtt	p.L436V	USP48_ENST00000400301.1_Missense_Mutation_p.L436V|USP48_ENST00000421625.2_Missense_Mutation_p.L436V|USP48_ENST00000529637.1_Missense_Mutation_p.L435V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	436					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AGCTCTTGAAGAAAGGCTATT	0.333000													4	63					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039474	58039474	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:58039474C>T	ENST00000299766.3	-	1	527	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	37			D -> V (in obesity; dbSNP:rs13447325).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CACCCTCCATCAGAGTAGCCT	0.512000													7	110					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7585179	7585179	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:7585179G>T	ENST00000313599.3	-	4	656	c.599C>A	c.(598-600)tCt>tAt	p.S200Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.S200Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.S210Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	200	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AATAAAAGAAGATGGACATCC	0.463000													5	91					2.0095e-06	2.14122e-06	1	1	0
MMP14	4323	broad.mit.edu	37	14	23306101	23306101	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:23306101C>G	ENST00000311852.6	+	1	336	c.75C>G	c.(73-75)ctC>ctG	p.L25L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	25						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCGCCTCCCTCGGCTCGGCCC	0.726000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	89					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372338	1372338	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:1372338G>A	ENST00000476993.1	+	2	183	c.105G>A	c.(103-105)ctG>ctA	p.L35L	VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	35	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGGGGACCTGATGTTCCTGC	0.662000													9	114					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26752802	26752802	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:26752802C>G	ENST00000326279.6	+	4	597	c.483C>G	c.(481-483)tgC>tgG	p.C161W	LIN28A_ENST00000254231.4_Missense_Mutation_p.C161W	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	161					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CCAAGAAGTGCCACTTCTGCC	0.527000													7	89					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265349	39265349	+	Nonsense_Mutation	SNP	A	A	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:39265349A>T	ENST00000280481.7	+	1	4084	c.3868A>T	c.(3868-3870)Aag>Tag	p.K1290*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1290					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGTGGAAAAGACGGTCCT	0.398000													85	130					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534607	115534607	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:115534607G>A	ENST00000354462.3	+	3	192	c.34G>A	c.(34-36)Gag>Aag	p.E12K	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E82K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E268K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E180K|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E262K					pleckstrin homology domain containing, family S member 1																		GACATCCCATGAGTCTGTGGA	0.453000													13	51					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698054	34698054	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:34698054C>T	ENST00000360581.1	+	1	158	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NPSR1_ENST00000531252.1_Silent_p.F10F|NPSR1_ENST00000381553.3_Silent_p.F10F|NPSR1_ENST00000465305.1_Silent_p.F10F|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000359791.1_Silent_p.F10F|NPSR1_ENST00000381539.3_Silent_p.F10F|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.F10F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	10						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGGGCAGCTTCGATTCCAGTG	0.572000													12	81					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289185	98289185	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:98289185G>C	ENST00000322128.3	-	1	991	c.888C>G	c.(886-888)ttC>ttG	p.F296L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	296					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GATCGAAGTAGAACTTGATTT	0.468000													13	77					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75178285	75178285	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:75178285C>G	ENST00000336926.6	-	23	2336	c.2310G>C	c.(2308-2310)agG>agC	p.R770S	HIP1_ENST00000434438.2_Missense_Mutation_p.R770S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	770					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTCCAGTCCCCTGGGCAGGA	0.562000			T	PDGFRB	CMML								10	152					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351134	47351134	+	RNA	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:47351134C>A	ENST00000505841.1	-	0	488					NR_002788.2																						TTACCAGCATCATCCGAACAC	0.473000													4	34					0.014758	0.0149736	1	1	0
FOXP4	116113	broad.mit.edu	37	6	41565609	41565609	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:41565609G>A	ENST00000373060.1	+	16	2274	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	FOXP4_ENST00000373063.3_Missense_Mutation_p.D593N|FOXP4_ENST00000373057.3_Missense_Mutation_p.D604N|FOXP4_ENST00000409208.1_Missense_Mutation_p.D594N|FOXP4_ENST00000307972.4_Missense_Mutation_p.D606N	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	606					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCAGCCACGATGACGTGGG	0.716000											OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	13					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052159	17052159	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:17052159C>T	ENST00000418129.2	+	2	1408	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	PLCL2_ENST00000432376.1_Missense_Mutation_p.H315Y|PLCL2_ENST00000396755.2_Missense_Mutation_p.H315Y|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	441					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						AAACTCATCTCATAATACATA	0.388000													44	150					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	168921845	168921845	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:168921845G>A	ENST00000355999.4	-	13	1994	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	430					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTCGTGCACAGAGAGGGACTG	0.458000													40	18					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53854560	53854560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:53854560G>T	ENST00000315251.6	-	6	1498	c.1061C>A	c.(1060-1062)tCa>tAa	p.S354*		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase						alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CTTCTGTGCTGAATGGAGGGT	0.552000													78	104					2.17451e-35	2.44673e-35	1	1	0
PLA2G5	5322	broad.mit.edu	37	1	20412631	20412631	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:20412631G>A	ENST00000375108.3	+	3	364	c.96G>A	c.(94-96)gtG>gtA	p.V32V	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	32					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGAGAAGGTGACAGGGAAGA	0.592000													5	67					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42840065	42840065	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:42840065C>T	ENST00000432191.2	+	11	1323	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	PPHLN1_ENST00000395568.2_Silent_p.L441L|PPHLN1_ENST00000256678.8_Silent_p.L346L|PPHLN1_ENST00000317560.9_Intron	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	441					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ttgctatgctctctgttgtac	0.448000													16	21					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11190666	11190666	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:11190666C>T	ENST00000361445.4	-	39	5609	c.5533G>A	c.(5533-5535)Gag>Aag	p.E1845K	MTOR_ENST00000376838.1_Missense_Mutation_p.E50K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1845	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTGCTGCCCTCggtgctggca	0.632000													25	35					0	0	1	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725796	99725796	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:99725796G>C	ENST00000398075.2	+	2	1177	c.778G>C	c.(778-780)Gac>Cac	p.D260H		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	260							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GGTGGTCGGAGACGAGGAGCC	0.632000													4	6					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273823	212273823	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:212273823C>A	ENST00000366991.4	+	14	1805	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.F455L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	497					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTTCATCTTTCAAGATGTCGA	0.527000													8	64					5.18039e-06	5.50462e-06	1	1	0
PAX9	5083	broad.mit.edu	37	14	37132476	37132476	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:37132476C>T	ENST00000361487.6	+	2	604	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	PAX9_ENST00000402703.2_Silent_p.L127L|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	127	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAGCCGCATTCTGCGCAACAA	0.622000													62	115					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944219	50944219	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:50944219G>C	ENST00000374103.4	-	22	2844	c.2759C>G	c.(2758-2760)tCt>tGt	p.S920C	OGDHL_ENST00000432695.1_Missense_Mutation_p.S711C|OGDHL_ENST00000419399.1_Missense_Mutation_p.S863C|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	920					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGGGAATGGAGAGATCTGGGG	0.602000													6	15					0	0	1	0	0
C20orf112	140688	broad.mit.edu	37	20	31043946	31043946	+	Missense_Mutation	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:31043946T>C	ENST00000359676.5	-	3	504	c.362A>G	c.(361-363)aAa>aGa	p.K121R	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	121										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CACCCCGTATTTGACGCGGCT	0.627000													93	141					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948538	71948538	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:71948538G>A	ENST00000541756.1	+	26	3454	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	INPPL1_ENST00000538751.1_Missense_Mutation_p.E842K|INPPL1_ENST00000298229.2_Missense_Mutation_p.E1084K			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1084					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGTGGGGCTGAGGCCCGTGG	0.682000													6	49					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376194	52376194	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:52376194C>G	ENST00000420592.1	-	6	2205	c.872G>C	c.(871-873)gGa>gCa	p.G291A	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.G291A|ZNF577_ENST00000301399.5_Missense_Mutation_p.G350A			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGGTCTCTCTCCAGTGTGAGT	0.428000													8	46					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1475755	1475755	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:1475755G>C	ENST00000308219.9	+	16	1971	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	BRSK2_ENST00000526678.1_Missense_Mutation_p.E551Q|BRSK2_ENST00000531197.1_Missense_Mutation_p.E529Q|BRSK2_ENST00000528841.1_Missense_Mutation_p.E529Q|BRSK2_ENST00000528710.1_Missense_Mutation_p.E469Q|BRSK2_ENST00000308230.5_Missense_Mutation_p.E551Q|BRSK2_ENST00000544817.1_Missense_Mutation_p.E224Q|BRSK2_ENST00000382179.1_Missense_Mutation_p.E575Q	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	529					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CATCAGCCTGGAGAAGGAGGA	0.592000													33	33					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117864791	117864791	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:117864791G>A	ENST00000227752.3	+	5	735	c.615G>A	c.(613-615)gtG>gtA	p.V205V	IL10RA_ENST00000545409.1_Silent_p.V56V|IL10RA_ENST00000541785.1_Silent_p.V185V|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	205						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GTGTCCAGGTGAAACCATCTG	0.473000													8	54					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319816	78319816	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:78319816C>T	ENST00000582970.1	+	29	7824	c.7681C>T	c.(7681-7683)Ctg>Ttg	p.L2561L	RNF213_ENST00000508628.2_Silent_p.L2610L|RNF213_ENST00000336301.6_Silent_p.L634L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCATTCCTCTGAGGCAGCT	0.567000													4	66					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185241892	185241892	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:185241892C>G	ENST00000296252.4	-	5	826	c.685G>C	c.(685-687)Gat>Cat	p.D229H	LIPH_ENST00000424591.2_Missense_Mutation_p.D195H	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	229					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCAGGTTGATCCAATCCTCCA	0.403000													6	21					0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27310210	27310210	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:27310210C>G	ENST00000260599.6	+	1	596	c.83C>G	c.(82-84)tCg>tGg	p.S28W	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.S28W	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	28					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAGGACTCGGAGATAAGG	0.622000													7	6					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4839012	4839012	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:4839012G>C	ENST00000399583.3	-	15	3412	c.3225C>G	c.(3223-3225)ctC>ctG	p.L1075L	RADIL_ENST00000538469.1_Silent_p.L835L|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1075					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGCCCCCCTAGAGAGGGGGCG	0.627000													21	39					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589630	140589630	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:140589630C>G	ENST00000239450.2	+	1	1340	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S47C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		384	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGTTTGTTCTATCCCGGAG	0.463000													4	64					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29812651	29812651	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:29812651C>T	ENST00000375398.2	-	17	3341	c.2892G>A	c.(2890-2892)gaG>gaA	p.E964E	SVIL_ENST00000355867.4_Silent_p.E964E|SVIL_ENST00000375400.3_Silent_p.E538E			O95425	SVIL_HUMAN	supervillin	964					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCATACTTCTCCATCCCAC	0.498000													12	191					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659547	24659547	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24659547G>A	ENST00000396854.4	-	5	1755	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	TM9SF1_ENST00000524835.1_Intron|RP11-468E2.2_ENST00000561419.1_Intron|TM9SF1_ENST00000528669.1_Intron|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000261789.4_Intron	NM_001014842.1	NP_001014842.1	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TTGAGGTCAGGAACCTGACAG	0.488000													21	80					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157166467	157166467	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:157166467G>C	ENST00000231198.7	+	6	1118	c.874G>C	c.(874-876)Gag>Cag	p.E292Q		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	292					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAACATCCAGAGATTCTAGA	0.527000													50	72					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82043703	82043703	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:82043703G>A	ENST00000372213.3	-	3	521	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	87					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.I87I(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CGATGTGCTTGATGGTGTCCC	0.577000													4	32					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626410	44626410	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:44626410G>C	ENST00000576629.1	+	10	4400	c.3905G>C	c.(3904-3906)aGa>aCa	p.R1302T	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1302T|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1302						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GTACATGCCAGAAAAAAATAC	0.408000													13	428					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94708041	94708041	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:94708041G>A	ENST00000371552.4	+	14	1335	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	EXOC6_ENST00000260762.6_Missense_Mutation_p.E441K|EXOC6_ENST00000443748.2_Missense_Mutation_p.E338K|EXOC6_ENST00000371547.4_Missense_Mutation_p.E457K	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	441					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)				GGACATTTTTGAAGAAGATAA	0.323000													16	14					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61615785	61615785	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:61615785C>T	ENST00000583023.1	+	8	1727	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	KCNH6_ENST00000456941.2_Silent_p.F519F|KCNH6_ENST00000581784.1_Silent_p.F519F|KCNH6_ENST00000314672.5_Silent_p.F572F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	572					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGAAGGGCTTCCCCGAGTGCC	0.741000													3	19					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54507425	54507425	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:54507425C>G	ENST00000371344.1	-	2	1623	c.204G>C	c.(202-204)ttG>ttC	p.L68F	TMEM59_ENST00000371341.1_Missense_Mutation_p.L68F|TMEM59_ENST00000371348.1_Missense_Mutation_p.L68F|TMEM59_ENST00000234831.5_Missense_Mutation_p.L199F			Q9BXS4	TMM59_HUMAN	transmembrane protein 59	199						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATGATTCTCTCAAATTTGTAG	0.338000													6	97					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38289446	38289446	+	Silent	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:38289446G>T	ENST00000373036.4	-	8	1247	c.1107C>A	c.(1105-1107)atC>atA	p.I369I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	369						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCAAAGATGATTGCTGGTG	0.443000													18	16					8.34094e-07	8.93755e-07	1	1	0
COPB1	1315	broad.mit.edu	37	11	14512189	14512189	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:14512189C>T	ENST00000249923.3	-	5	828	c.528G>A	c.(526-528)ctG>ctA	p.L176L	COPB1_ENST00000439561.2_Silent_p.L176L	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	176					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATCATGTATCAGTTCAGGAG	0.308000													6	20					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123201304	123201304	+	Translation_Start_Site	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:123201304G>C	ENST00000528880.2	-	0	135				HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3							integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TAGTGAGTCCGATGGAGCGCC	0.512000													26	53					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169588419	169588419	+	Missense_Mutation	SNP	C	C	G	rs147232330		TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:169588419C>G	ENST00000263686.6	-	2	79	c.42G>C	c.(40-42)caG>caC	p.Q14H	SELP_ENST00000367788.2_Missense_Mutation_p.Q14H|SELP_ENST00000367793.2_Missense_Mutation_p.Q14H|SELP_ENST00000367786.2_Missense_Mutation_p.Q14H|SELP_ENST00000367791.2_Missense_Mutation_p.Q14H|SELP_ENST00000367792.2_Missense_Mutation_p.Q14H|SELP_ENST00000458599.2_Missense_Mutation_p.Q14H|SELP_ENST00000367794.2_Missense_Mutation_p.Q14H	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	14					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGACCACTCTCTGGAATCTCT	0.403000													6	45					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101108	50101108	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:50101108G>A	ENST00000298292.8	-	1	840	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	DNAAF2_ENST00000406043.3_Missense_Mutation_p.R254C	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	254					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						ACGCTGTAGCGAGGCTCGGTG	0.711000													3	22					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113754379	113754379	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:113754379C>A	ENST00000552014.1	-	11	1460	c.945G>T	c.(943-945)atG>atT	p.M315I	SLC8B1_ENST00000546737.1_Missense_Mutation_p.M259I|SLC8B1_ENST00000202831.3_Missense_Mutation_p.M315I|SLC8B1_ENST00000553238.1_5'UTR					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	315																	TTCTCCACTTCATGTAATCCA	0.572000													10	364					2.17888e-05	2.28977e-05	1	1	0
CCT6B	10693	broad.mit.edu	37	17	33281526	33281526	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:33281526C>T	ENST00000314144.5	-	4	544	c.429G>A	c.(427-429)atG>atA	p.M143I	CCT6B_ENST00000421975.3_Missense_Mutation_p.M143I|CCT6B_ENST00000436961.3_Missense_Mutation_p.M98I	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	143					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTTTTCTTTTCATCTCCTTTG	0.363000													5	46					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756778	756778	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:756778C>G	ENST00000584307.1	-	2	220	c.50G>C	c.(49-51)aGa>aCa	p.R17T	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.R22T|YES1_ENST00000314574.4_Missense_Mutation_p.R17T			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	17					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ATTTTCAGGTCTGTATTTAAT	0.398000													8	144					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685629	53685629	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:53685629C>G	ENST00000257934.4	+	26	5767	c.5676C>G	c.(5674-5676)gtC>gtG	p.V1892V	ESPL1_ENST00000552462.1_Silent_p.V1892V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1892					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCACCTTGTCTTGGTCCTAG	0.572000													37	89					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866072	7866072	+	Missense_Mutation	SNP	A	A	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:7866072A>C	ENST00000264669.5	-	3	1599	c.1463T>G	c.(1462-1464)tTg>tGg	p.L488W	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	488					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCCCGACTCAATGTGTCCAA	0.408000													41	68					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48664355	48664355	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:48664355C>T	ENST00000358747.6	-	17	2214	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D	SLC26A6_ENST00000455886.2_Missense_Mutation_p.G640D|SLC26A6_ENST00000337000.8_Missense_Mutation_p.G568D|SLC26A6_ENST00000383733.3_Missense_Mutation_p.G657D|SLC26A6_ENST00000420764.2_Missense_Mutation_p.G675D|SLC26A6_ENST00000395550.2_Missense_Mutation_p.G676D	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GGAGAGGGCACCCAGGTCCAG	0.592000													32	82					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687545	61687545	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:61687545G>C	ENST00000577390.1	-	12	3321	c.2367C>G	c.(2365-2367)ctC>ctG	p.L789L	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	789					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAACAGAGTAGAGTTCGCCCA	0.463000													40	14					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30384487	30384487	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:30384487G>A	ENST00000333027.3	+	6	557	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000401950.2_Missense_Mutation_p.E77K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E77K|MTMR3_ENST00000406629.1_Missense_Mutation_p.E77K|MTMR3_ENST00000415511.1_Intron	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	77					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGCTTATAGAAAGTGTTGA	0.363000													28	79					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065177	32065177	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:32065177C>G	ENST00000375244.3	-	3	654	c.453G>C	c.(451-453)ctG>ctC	p.L151L	TNXB_ENST00000479795.1_Silent_p.L151L|TNXB_ENST00000375247.2_Silent_p.L151L			P22105	TENX_HUMAN	tenascin XB	151					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCAGCGGCTCAGATCAAACA	0.622000													6	76					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46007805	46007805	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:46007805C>G	ENST00000296137.2	-	8	3226	c.3021G>C	c.(3019-3021)ctG>ctC	p.L1007L	FYCO1_ENST00000535325.1_Silent_p.L1007L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1007					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTCAGCACTCAGCTGGAACT	0.612000													31	68					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284636	39284636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:39284636C>A	ENST00000425054.2	-	4	582	c.583G>T	c.(583-585)Gag>Tag	p.E195*	KCNK16_ENST00000373229.5_Nonsense_Mutation_p.E195*|KCNK16_ENST00000373227.4_Nonsense_Mutation_p.E195*|KCNK16_ENST00000437525.2_Nonsense_Mutation_p.E195*|KCNK16_ENST00000507712.1_Nonsense_Mutation_p.E130*	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	195						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.E195K(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTCCAGCCCTCCACATGGCTG	0.542000													99	98					1.40862e-40	1.58729e-40	1	1	0
NSD1	64324	broad.mit.edu	37	5	176638319	176638319	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:176638319G>C	ENST00000439151.2	+	5	2964	c.2919G>C	c.(2917-2919)caG>caC	p.Q973H	NSD1_ENST00000354179.4_Missense_Mutation_p.Q704H|NSD1_ENST00000361032.4_Missense_Mutation_p.Q870H|NSD1_ENST00000347982.4_Missense_Mutation_p.Q704H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	973					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	p.Q973H(2)		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)		ATGGCACTCAGAACTCCGCCA	0.517000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	64					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452733	64452733	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:64452733G>C	ENST00000394323.2	-	2	1172	c.672C>G	c.(670-672)gtC>gtG	p.V224V		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		224						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cttcaccgctgactcgtgccc	0.438000													55	157					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49039949	49039949	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:49039949G>T	ENST00000343546.4	+	4	1012	c.644G>T	c.(643-645)cGc>cTc	p.R215L	P4HTM_ENST00000383729.4_Missense_Mutation_p.R215L	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	215	EF-hand 1.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|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			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCCCAGACTCGCCTGGGAAAT	0.572000													12	156					0.00010058	0.000104548	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33016024	33016024	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:33016024C>G	ENST00000280979.4	+	4	2335	c.2165C>G	c.(2164-2166)tCt>tGt	p.S722C	AKAP6_ENST00000557354.1_Missense_Mutation_p.S722C|AKAP6_ENST00000557272.1_Missense_Mutation_p.S722C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	722					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACATTCTTTCTGATGAGGAG	0.483000													16	49					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616628	1616628	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:1616628G>A	ENST00000421627.2	+	6	1838	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	647					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCGCGCACAGAGGATGTCCC	0.672000													8	12					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798354	185798354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:185798354G>T	ENST00000302277.6	+	3	874	c.280G>T	c.(280-282)Gaa>Taa	p.E94*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	94						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						GAAACAAAGGGAATTTGCTCG	0.358000													4	27					1.23904e-05	1.30389e-05	1	1	0
HS3ST5	222537	broad.mit.edu	37	6	114378490	114378490	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:114378490C>T	ENST00000312719.5	-	5	2160	c.972G>A	c.(970-972)ttG>ttA	p.L324L	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L324L|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	324					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AGAATTTGCGCAATTTAGTAA	0.408000													34	22					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2417887	2417887	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:2417887C>T	ENST00000263645.5	+	7	847	c.591C>T	c.(589-591)ctC>ctT	p.L197L	CD81_ENST00000381036.3_Silent_p.L235L|CD81_ENST00000526072.1_Silent_p.L126L|CD81_ENST00000492627.1_Silent_p.L126L|CD81_ENST00000481687.1_Silent_p.L203L	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	197					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCGATGACCTCTTCTCCGGGA	0.667000													12	205					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78163605	78163605	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:78163605G>A	ENST00000370793.1	-	24	2960	c.2614C>T	c.(2614-2616)Cct>Tct	p.P872S	USP33_ENST00000370794.3_Missense_Mutation_p.P841S|USP33_ENST00000357428.1_Missense_Mutation_p.P872S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	872	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTGTCAATAGGACCTGGAGGA	0.313000													16	86					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191840560	191840560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:191840560C>A	ENST00000361099.3	-	23	2500	c.2113G>T	c.(2113-2115)Gag>Tag	p.E705*	STAT1_ENST00000392323.2_Nonsense_Mutation_p.E707*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.E705*|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Nonsense_Mutation_p.E705*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	705					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E705K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAATCAACTCAGTCTTGATA	0.443000													6	21					3.59834e-05	3.76078e-05	1	1	0
SPATA20	64847	broad.mit.edu	37	17	48628221	48628221	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:48628221C>T	ENST00000006658.6	+	11	1446	c.1326C>T	c.(1324-1326)ggC>ggT	p.G442G	SPATA20_ENST00000356488.4_Silent_p.G426G|SPATA20_ENST00000393244.3_Silent_p.G382G|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	426					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGACCTCAGGCCAGCTCCTCA	0.632000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	151					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031904	10031904	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:10031904G>C	ENST00000396573.2	-	4	1228	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	GRIN2A_ENST00000535259.1_Missense_Mutation_p.L150V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L307V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L307V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L307V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L307V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	307					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)	AACTTCTCCAGCATAGAAGAT	0.582000													5	25					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2404018	2404018	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:2404018G>C	ENST00000360876.4	+	6	1067	c.1011G>C	c.(1009-1011)gaG>gaC	p.E337D	EIF3B_ENST00000397011.2_Missense_Mutation_p.E337D	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	337	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GATGGACAGAGACGTATGTGC	0.443000													6	165					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286433	11286433	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:11286433C>G	ENST00000539585.1	-	1	810	c.411G>C	c.(409-411)ttG>ttC	p.L137F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CCAAAAATAGCAAAGGCCCCA	0.373000													51	112					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686235	125686235	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:125686235C>T	ENST00000371126.1	-	1	599	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	119										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCACGAAAAGCGTGTTACACT	0.637000													14	42					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25152613	25152613	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:25152613G>T	ENST00000332271.5	-	5	831	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	PIWIL3_ENST00000527701.1_Missense_Mutation_p.Q30K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Q30K|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	139					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCAACCCACTGAGGACGAGAT	0.408000													8	35					5.18039e-06	5.50462e-06	1	1	0
TNC	3371	broad.mit.edu	37	9	117792633	117792633	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:117792633C>T	ENST00000350763.4	-	24	6383	c.5972G>A	c.(5971-5973)gGa>gAa	p.G1991E	TNC_ENST00000346706.3_Missense_Mutation_p.G1445E|TNC_ENST00000423613.2_Missense_Mutation_p.G1718E|TNC_ENST00000542877.1_Missense_Mutation_p.G1628E|TNC_ENST00000345230.3_Missense_Mutation_p.G1354E|TNC_ENST00000535648.1_Missense_Mutation_p.G1536E|TNC_ENST00000340094.3_Missense_Mutation_p.G1627E|TNC_ENST00000341037.4_Missense_Mutation_p.G1809E|TNC_ENST00000537320.1_Missense_Mutation_p.G1354E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1991	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTCGTGTCTCCATTCAGCAT	0.522000													53	73					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709935	24709935	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24709935C>T	ENST00000399423.4	-	6	1081	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TINF2_ENST00000267415.7_Missense_Mutation_p.E251K|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.E216K|TINF2_ENST00000538777.1_Missense_Mutation_p.E37K	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	251					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GCTAGAGGTTCTGGGTGCGTC	0.577000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				24	142					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250070	68250070	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:68250070C>T	ENST00000347230.4	-	21	3937	c.3799G>A	c.(3799-3801)Gac>Aac	p.D1267N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D1267N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1267					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTGGGAGGTCATCCAGGCAG	0.592000													9	194					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933724	70933724	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:70933724C>A	ENST00000334414.6	-	24	5717	c.5673G>T	c.(5671-5673)caG>caT	p.Q1891H	PTPRB_ENST00000451516.2_Missense_Mutation_p.Q1583H|PTPRB_ENST00000261266.5_Missense_Mutation_p.Q1673H|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q1583H|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q1803H|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q1583H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1673	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTACCCTTTCTGGCCCAGGT	0.433000													5	58					0.00198382	0.00203989	1	1	0
WIZ	58525	broad.mit.edu	37	19	15547812	15547812	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:15547812C>T	ENST00000389282.4	-	4	2614	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	WIZ_ENST00000263381.7_Missense_Mutation_p.E112K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	801						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACAGTGAGCTCCCAGTTGGTG	0.682000													11	77					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90584767	90584767	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:90584767C>T	ENST00000375883.3	-	5	874	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	CDK20_ENST00000375871.4_Intron|CDK20_ENST00000605159.1_Missense_Mutation_p.E190K|CDK20_ENST00000336654.5_Missense_Mutation_p.E203K|CDK20_ENST00000325303.8_Missense_Mutation_p.E211K	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	211	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CAAAGCTGTTCAATATCGTTC	0.572000													10	97					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890270	51890270	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:51890270G>A	ENST00000371117.3	-	32	4613	c.4338C>T	c.(4336-4338)agC>agT	p.S1446S	PKHD1_ENST00000340994.4_Silent_p.S1446S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1446	IPT/TIG 9.				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)					CACCCTCCAGGCTAACCTGGC	0.517000													37	79					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468478	56468478	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:56468478C>G	ENST00000288221.6	-	2	813	c.558G>C	c.(556-558)tgG>tgC	p.W186C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	186						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)		GCTCAGGACTCCAGAAAGTCT	0.473000													21	178					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591259	33591259	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:33591259C>T	ENST00000380099.3	+	1	689	c.681C>T	c.(679-681)ttC>ttT	p.F227F	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	227	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCCGCCACTTCGGCGGTCAGG	0.711000													21	30					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32799998	32799998	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:32799998C>G	ENST00000380250.3	+	39	5589	c.5093C>G	c.(5092-5094)tCt>tGt	p.S1698C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGCCCTCTCTTGCAACAGC	0.473000													43	74					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2772301	2772301	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:2772301G>A	ENST00000320876.6	+	41	5444	c.5106G>A	c.(5104-5106)ctG>ctA	p.L1702L	SMCHD1_ENST00000261598.8_Silent_p.L1702L|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1702					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGAAGAACTGAAGAAAAAAC	0.343000													7	69					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595111	11595111	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:11595111C>G	ENST00000294484.6	+	19	3717	c.3579C>G	c.(3577-3579)atC>atG	p.I1193M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.L80V|PTCHD2_ENST00000389575.3_Missense_Mutation_p.I1193M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1193					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGCTCATCTGCGTGGCCG	0.682000													8	8					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945390	17945390	+	Silent	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:17945390G>T	ENST00000458235.1	-	17	2439	c.2340C>A	c.(2338-2340)ctC>ctA	p.L780L	JAK3_ENST00000534444.1_Silent_p.L780L|JAK3_ENST00000527670.1_Silent_p.L780L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	780	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGAAGAGATGAGGCTATTGA	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								9	70					2.74318e-10	3.00687e-10	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130287440	130287440	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:130287440C>T	ENST00000358511.6	+	5	2424	c.2393C>T	c.(2392-2394)cCc>cTc	p.P798L	COL6A6_ENST00000453409.2_Missense_Mutation_p.P798L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	798	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATATGCAGCCCCCGTGAAGGT	0.408000													19	53					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941650	22941650	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:22941650G>A	ENST00000397104.3	-	5	787	c.788C>T	c.(787-789)tCa>tTa	p.S263L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S354L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAAGGGTTGAGGACTGGCT	0.368000													44	43					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87022230	87022230	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:87022230G>A	ENST00000395169.3	-	8	1311	c.591C>T	c.(589-591)atC>atT	p.I197I	MAPK10_ENST00000395166.1_Silent_p.I197I|MAPK10_ENST00000395157.3_Silent_p.I90I|MAPK10_ENST00000395160.3_Silent_p.I90I|MAPK10_ENST00000361569.2_Silent_p.I235I|MAPK10_ENST00000359221.3_Silent_p.I235I|MAPK10_ENST00000395161.2_Silent_p.I235I|MAPK10_ENST00000449047.2_Silent_p.I90I	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	235	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCATCCCCAGGATGACCTCAG	0.512000													227	52					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680279	36680279	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:36680279G>C	ENST00000216181.5	-	40	5855	c.5625C>G	c.(5623-5625)ctC>ctG	p.L1875L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1875					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGCCGCTTGAGCTGCTTCA	0.701000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	53					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19346901	19346901	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:19346901G>A	ENST00000380432.2	+	18	3312	c.3279G>A	c.(3277-3279)ctG>ctA	p.L1093L	DENND4C_ENST00000602925.1_Silent_p.L1329L|DENND4C_ENST00000434457.2_Silent_p.L1378L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1093						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTCAGCACTGGTGCGTTCTT	0.473000													26	39					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100133670	100133670	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:100133670C>T	ENST00000395996.1	+	8	1314	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	VPS13B_ENST00000357162.2_Silent_p.F401F|VPS13B_ENST00000355155.1_Silent_p.F401F|VPS13B_ENST00000358544.2_Silent_p.F401F|VPS13B_ENST00000441350.2_Silent_p.F401F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	401				F -> S (in Ref. 3; BAA91275).	protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CGGTGACTTTCAAAGTAGGTC	0.348000													22	52					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77673121	77673121	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:77673121G>A	ENST00000407578.2	-	56	8434	c.8168C>T	c.(8167-8169)tCt>tTt	p.S2723F	MYCBP2_ENST00000360084.5_Missense_Mutation_p.S208F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2685F|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2685F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2685	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCTGGTTTAGAAGATGTTGA	0.393000													9	92					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99715957	99715957	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:99715957G>C	ENST00000524871.1	+	6	830	c.540G>C	c.(538-540)ggG>ggC	p.G180G	CNTN5_ENST00000528682.1_Silent_p.G180G|CNTN5_ENST00000279463.3_Silent_p.G180G|CNTN5_ENST00000527185.1_Silent_p.G180G|CNTN5_ENST00000418526.2_Silent_p.G106G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	180	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACACTGTGGGGAGTATTCTTA	0.343000													13	132					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101299952	101299952	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:101299952G>C	ENST00000519449.1	-	3	767	c.451C>G	c.(451-453)Cat>Gat	p.H151D	RNF19A_ENST00000341084.2_Missense_Mutation_p.H151D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	151					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GATCTGTGATGACAAGTCATT	0.373000													18	124					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13919935	13919935	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:13919935C>T	ENST00000254323.2	+	5	1102	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.L22F	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	305							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CATGCTGATTCTCATGACCGA	0.701000													8	115					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178855171	178855171	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:178855171C>G	ENST00000367635.3	+	13	1446	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	RALGPS2_ENST00000367634.2_Missense_Mutation_p.L370V|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	370					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACCAAGACATCTGTTAGATGA	0.383000													9	90					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105857978	105857978	+	Silent	SNP	C	C	T	rs139536717		TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:105857978C>T	ENST00000447393.1	+	21	2272	c.2097C>T	c.(2095-2097)gaC>gaT	p.D699D	PACS2_ENST00000458164.2_Silent_p.D710D|PACS2_ENST00000547217.1_Silent_p.D665D|PACS2_ENST00000325438.8_Silent_p.D695D|PACS2_ENST00000551743.1_Silent_p.D209D|PACS2_ENST00000551801.1_5'UTR|PACS2_ENST00000430725.2_Silent_p.D620D	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	695					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCGACTCGGACGACGCGGCCC	0.736000													4	39					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016894	25016894	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:25016894G>A	ENST00000400382.1	+	9	1345	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	GGT1_ENST00000400380.1_Missense_Mutation_p.R197Q|GGT1_ENST00000400383.1_Missense_Mutation_p.R197Q|GGT1_ENST00000406383.2_Missense_Mutation_p.R197Q|GGT1_ENST00000248923.4_Missense_Mutation_p.R197Q|GGT1_ENST00000466310.1_Intron			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	197					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTGTTCTGCCGGGATAGAAAG	0.637000													4	62					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43890068	43890068	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:43890068C>G	ENST00000562955.1	+	16	2436	c.2436C>G	c.(2434-2436)ctC>ctG	p.L812L	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	812						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGCTGCCTCTCAGTGCCATTG	0.607000													53	56					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606820	82606820	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:82606820C>G	ENST00000518568.1	-	1	1589	c.388G>C	c.(388-390)Gac>Cac	p.D130H		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	130						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTAGACTGTCTTTTTGTTTG	0.343000													4	80					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10058874	10058874	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:10058874G>A	ENST00000380861.4	+	6	832	c.441G>A	c.(439-441)atG>atA	p.M147I	WWC3_ENST00000454666.1_Missense_Mutation_p.M147I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	147										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGCTATCATGAGTGAGCTCC	0.463000													23	16					0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871409	20871409	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:20871409G>A	ENST00000324344.4	-	3	999	c.714C>T	c.(712-714)atC>atT	p.I238I	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.I238I	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3		DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TGTCCCGGGAGATGCCCTTGA	0.507000													42	19					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022592	58022592	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:58022592G>C	ENST00000341156.4	-	8	1490	c.906C>G	c.(904-906)ttC>ttG	p.F302L	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.F247L|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.F269L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	302					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGTTGGGTAGAAGCGGCGGA	0.567000													5	94					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89790900	89790900	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:89790900C>G	ENST00000310775.7	+	2	108	c.22C>G	c.(22-24)Cta>Gta	p.L8V	FANCI_ENST00000567996.1_Missense_Mutation_p.L8V|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.L8V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	8					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATTTTATCTCTAGCAGCAGA	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	83					0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38020253	38020253	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:38020253C>G	ENST00000378533.3	-	6	814	c.708G>C	c.(706-708)aaG>aaC	p.K236N	SRPX_ENST00000544439.1_Missense_Mutation_p.K216N|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.K223N|SRPX_ENST00000432886.2_Missense_Mutation_p.K177N|SRPX_ENST00000538295.1_Missense_Mutation_p.K236N	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	236	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGTACTGGATCTTGTGGTCTC	0.423000													13	38					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774709	14774709	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:14774709C>G	ENST00000295092.2	+	2	894	c.606C>G	c.(604-606)ctC>ctG	p.L202L	FAM84A_ENST00000331243.4_Silent_p.L202L	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	202										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACCTGGGCCTCAAGAGCGAGG	0.697000													3	7					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64568722	64568722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:64568722G>T	ENST00000357395.3	+	65	12753	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E4152*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E4152*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E4167*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E786*|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.E537*			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4152					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGACATGGAAGAAGACAGAGC	0.507000													8	56					0.000442599	0.000458814	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65858480	65858480	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:65858480C>T	ENST00000395325.3	+	12	1821	c.1664C>T	c.(1663-1665)tCt>tTt	p.S555F	DNAJC6_ENST00000371069.4_Missense_Mutation_p.S612F|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S542F	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	555	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGACCTGCGTCTACCCAGTCA	0.552000													17	32					0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57318188	57318188	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:57318188G>A	ENST00000514888.1	+	8	1161	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	PAICS_ENST00000399688.3_Missense_Mutation_p.E315K|PAICS_ENST00000512576.1_Missense_Mutation_p.E308K|PAICS_ENST00000264221.2_Missense_Mutation_p.E308K			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	308	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	AGGACCAGATGAAACTCTGAG	0.368000													4	15					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131944576	131944576	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:131944576G>C	ENST00000403834.3	-	5	484	c.311C>G	c.(310-312)tCt>tGt	p.S104C	MED23_ENST00000368068.3_Missense_Mutation_p.S104C|MED23_ENST00000354577.4_Missense_Mutation_p.S104C|MED23_ENST00000540546.1_Missense_Mutation_p.S104C|MED23_ENST00000368060.3_Missense_Mutation_p.S104C|MED23_ENST00000368053.4_Missense_Mutation_p.S104C|MED23_ENST00000368058.1_Missense_Mutation_p.S104C|MED23_ENST00000539158.1_Missense_Mutation_p.S104C			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	104					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAGAGTGTCAGAGTTTATCAG	0.373000													10	61					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907978	23907978	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:23907978G>T	ENST00000382298.3	-	10	10625	c.10037C>A	c.(10036-10038)cCt>cAt	p.P3346H	SACS_ENST00000402364.1_Missense_Mutation_p.P2596H|SACS_ENST00000382292.3_Missense_Mutation_p.P3346H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3346					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGACAACAAAGGAACAAATGC	0.383000													6	74					5.9392e-07	6.39993e-07	1	1	0
KRT16P2	400578	broad.mit.edu	37	17	16735592	16735592	+	RNA	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:16735592G>C	ENST00000579062.1	-	0	296																											TGATCTCACTGGGCCGCTGCC	0.592000													13	181					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118627646	118627646	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:118627646C>T	ENST00000392533.3	-	14	1785	c.1295G>A	c.(1294-1296)aGa>aAa	p.R432K	TAOK3_ENST00000537952.1_5'UTR|TAOK3_ENST00000419821.2_Missense_Mutation_p.R432K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	432					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAGCGCTCTCTGTTCCGGTA	0.597000													17	237					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371639	33371639	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:33371639G>A	ENST00000428849.2	+	6	939	c.489G>A	c.(487-489)gaG>gaA	p.E163E	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	163					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGACCAAGAGAACCAGCAGC	0.547000													16	125					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125609254	125609254	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:125609254C>G	ENST00000316519.6	+	11	1331	c.1125C>G	c.(1123-1125)atC>atG	p.I375M	AACS_ENST00000545511.1_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.I375M|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	375					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACCCTAGCATCACTGTCCTGG	0.488000													49	46					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817199	1817199	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:1817199G>C	ENST00000250894.4	+	26	3292	c.3135G>C	c.(3133-3135)ccG>ccC	p.P1045P	MAPK8IP3_ENST00000356010.5_Silent_p.P1039P	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1045					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGGCCACCCGCACCACTCCA	0.617000													57	19					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888925	141888925	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:141888925C>T	ENST00000515673.2	-	2	620	c.587G>A	c.(586-588)gGa>gAa	p.G196E	RNF150_ENST00000379512.2_Missense_Mutation_p.G55E|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Missense_Mutation_p.G196E|RNF150_ENST00000507500.1_Missense_Mutation_p.G196E|RNF150_ENST00000420921.2_Missense_Mutation_p.G55E			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTTCCGGGTTCCGATGGTGAT	0.473000													71	27					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74535739	74535739	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:74535739G>A	ENST00000263665.6	-	3	253	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	76	Ig-like C2-type 1.				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)		AACTTATAACGATGTTCCATA	0.353000													9	68					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24625956	24625956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:24625956G>T	ENST00000379145.1	-	3	230	c.186C>A	c.(184-186)taC>taA	p.Y62*	PCYT1B_ENST00000356768.4_Nonsense_Mutation_p.Y80*|PCYT1B_ENST00000379144.2_Nonsense_Mutation_p.Y80*	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	80						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTCCATCGGCGTATACTCTGA	0.448000													2	2					6.4e-05	6.66305e-05	1	1	0
TM4SF5	9032	broad.mit.edu	37	17	4675346	4675346	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:4675346C>T	ENST00000270560.3	+	1	160	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	43						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CCAACCATCTCAGCTTGCAAG	0.627000													7	164					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235298969	235298969	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:235298969C>G	ENST00000408888.3	-	10	1236	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	RBM34_ENST00000366606.3_Missense_Mutation_p.E331Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	336	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TCCCATACCTCAAAGAGCACA	0.463000													11	81					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146223	156146223	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:156146223C>G	ENST00000368285.3	+	15	1988	c.1721C>G	c.(1720-1722)tCc>tGc	p.S574C	SEMA4A_ENST00000368284.1_Missense_Mutation_p.S442C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S574C|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S574C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S442C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	574	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GTCCCCAACTCCATCCTGGAG	0.522000													6	54					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540954	40540954	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:40540954C>G	ENST00000434248.1	-	5	1877	c.1812G>C	c.(1810-1812)caG>caC	p.Q604H	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q456H	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	604					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)					TATGAAATTTCTGATGTCGAA	0.408000													19	95					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100032	9100032	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:9100032G>A	ENST00000377424.4	-	7	891	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SLC2A5_ENST00000535586.1_Missense_Mutation_p.R123C|SLC2A5_ENST00000536305.1_Missense_Mutation_p.R179C	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	238					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGCCGCGCAGCGTCTGT	0.672000													38	49					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62065721	62065721	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:62065721G>C	ENST00000404929.1	-	4	1714	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*	FAM161A_ENST00000405894.3_Intron	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	540					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTTGATGTGAGTCATAAGC	0.363000													10	104					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73835941	73835941	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:73835941G>A	ENST00000207549.4	-	12	1413	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	UNC13D_ENST00000412096.2_Missense_Mutation_p.S345F|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	345	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGAAGTCGGATAGGTCCTT	0.667000									Familial Hemophagocytic Lymphohistiocytosis				67	12					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33425616	33425616	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:33425616G>C	ENST00000484457.1	+	14	1178	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	FBXL2_ENST00000538181.1_Missense_Mutation_p.E279Q|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000507198.1_Missense_Mutation_p.E295Q|FBXL2_ENST00000542085.1_Missense_Mutation_p.E73Q|FBXL2_ENST00000446237.3_Missense_Mutation_p.E104Q|FBXL2_ENST00000538892.1_Missense_Mutation_p.E295Q	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	363					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAACACCTAGAGAACTGCCG	0.607000													8	96					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541943	133541943	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:133541943G>C	ENST00000409261.1	-	14	2814	c.2441C>G	c.(2440-2442)tCa>tGa	p.S814*	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.S814*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	814							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATTAGTTTTGATTTCTGAGG	0.483000													110	43					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108203978	108203978	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:108203978C>G	ENST00000273353.3	-	12	1190	c.1134G>C	c.(1132-1134)caG>caC	p.Q378H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	378	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCTAGGTTTCTGTTTAAATT	0.418000													6	72					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)		TTCTTTGGCTGGGGAGAGGAG	0.473000		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)			54	13					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125941	58125941	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:58125941G>C	ENST00000357377.3	-	1	601	c.602C>G	c.(601-603)tCa>tGa	p.S201*		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTAAAACTTGATATAAGAAC	0.368000													20	32					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844101	77844101	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:77844101G>A	ENST00000216471.4	+	1	626	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	114										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACATCCAGAGAGATGGGAGA	0.488000													64	192					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167779023	167779023	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:167779023G>A	ENST00000367848.1	-	33	4946	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I	ADCY10_ENST00000367851.4_Silent_p.I1575I|ADCY10_ENST00000545172.1_Silent_p.I1422I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1575					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGAGACTCAAGATCGTCTGAA	0.398000													5	57					0	0	1	0	0
SPRTN	83932	broad.mit.edu	37	1	231488487	231488487	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:231488487C>G	ENST00000295050.7	+	5	1186	c.850C>G	c.(850-852)Ctt>Gtt	p.L284V	SPRTN_ENST00000391858.4_3'UTR|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3			SprT-like N-terminal domain																		AACCCAAGATCTTTTAAATCA	0.348000													12	27					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82491742	82491742	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:82491742G>A	ENST00000282268.3	+	4	644	c.469G>A	c.(469-471)Gat>Aat	p.D157N	XRCC4_ENST00000338635.6_Missense_Mutation_p.D157N|XRCC4_ENST00000511817.1_Missense_Mutation_p.D157N|XRCC4_ENST00000396027.4_Missense_Mutation_p.D157N|XRCC4_ENST00000509268.1_3'UTR	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	157					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AGATTGGAATGATGTTCAAGG	0.363000								Non-homologous end-joining					10	75					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688744	99688744	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:99688744G>A	ENST00000303904.3	+	7	655	c.618G>A	c.(616-618)atG>atA	p.M206I	COPS6_ENST00000418625.1_Missense_Mutation_p.M205I	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	206					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TAGCCCGAATGACAGCAACAG	0.557000													14	127					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216230246	216230246	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:216230246C>T	ENST00000354785.4	-	43	7495	c.7126G>A	c.(7126-7128)Gaa>Aaa	p.E2376K	FN1_ENST00000346544.3_Missense_Mutation_p.E2110K|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000345488.5_Missense_Mutation_p.E2083K|FN1_ENST00000421182.1_Missense_Mutation_p.E2139K|FN1_ENST00000357867.4_Missense_Mutation_p.E2075K|FN1_ENST00000446046.1_Missense_Mutation_p.E2229K|FN1_ENST00000359671.1_Missense_Mutation_p.E2285K|FN1_ENST00000356005.4_Missense_Mutation_p.E2195K|FN1_ENST00000323926.6_Missense_Mutation_p.E2345K|FN1_ENST00000336916.4_Missense_Mutation_p.E2254K|FN1_ENST00000443816.1_Missense_Mutation_p.E2164K|FN1_ENST00000432072.2_Missense_Mutation_p.E2166K			P02751	FINC_HUMAN	fibronectin 1	2285					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTTGAATTCTCCTTTTCCG	0.428000													20	89					0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25284237	25284237	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:25284237G>C	ENST00000339157.5	-	11	1250	c.978C>G	c.(976-978)ctC>ctG	p.L326L	ABHD12_ENST00000376542.3_Silent_p.L326L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	326						integral to membrane	acylglycerol lipase activity	p.L326L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CGTGCAGGATGAGCAGGGGAC	0.612000													7	39					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507120	95507120	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:95507120G>C	ENST00000297591.5	-	20	4684	c.4609C>G	c.(4609-4611)Cag>Gag	p.Q1537E	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1537					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTTCAGCCTGAAATGGAGTG	0.328000													19	223					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520899	70520899	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:70520899G>C	ENST00000265872.6	+	16	2175	c.2056G>C	c.(2056-2058)Gaa>Caa	p.E686Q	CCAR1_ENST00000543719.1_Missense_Mutation_p.E671Q|CCAR1_ENST00000535016.1_Missense_Mutation_p.E671Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	686	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGAAATCTGAAAAAGAAGA	0.323000													10	22					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979497	50979497	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:50979497G>A	ENST00000600100.1	-	1	513	c.149C>T	c.(148-150)cCt>cTt	p.P50L	FAM71E1_ENST00000595790.1_Missense_Mutation_p.P50L			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	50										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GAGGAGCAGAGGGAGAAAGCG	0.642000													10	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440539	179440539	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:179440539G>A	ENST00000589042.1	-	326	70544	c.70320C>T	c.(70318-70320)ctC>ctT	p.L23440L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.L20872L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.L14567L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L14500L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.L21799L|TTN_ENST00000460472.2_Silent_p.L14375L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21799	Fibronectin type-III 70.						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)			GCCGCAGGTTGAGGACTGGGC	0.498000													5	46					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148507438	148507438	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:148507438G>C	ENST00000320356.2	-	17	2137	c.2016C>G	c.(2014-2016)ttC>ttG	p.F672L	EZH2_ENST00000541220.1_Missense_Mutation_p.F616L|EZH2_ENST00000476773.1_Missense_Mutation_p.F616L|EZH2_ENST00000483967.1_Missense_Mutation_p.F658L|EZH2_ENST00000478654.1_Missense_Mutation_p.F616L|EZH2_ENST00000460911.1_Missense_Mutation_p.F667L|EZH2_ENST00000350995.2_Missense_Mutation_p.F628L	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	667	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTCAAGTTGAACAGAAAGC	0.433000			Mis		DLBCL								5	39					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104120397	104120397	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:104120397G>A	ENST00000361355.4	+	11	1892	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	426					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAACTGGTATGATAATGGGAG	0.338000													108	126					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39417575	39417575	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:39417575C>G	ENST00000378803.1	-	5	522	c.523G>C	c.(523-525)Gat>Cat	p.D175H	CDKL4_ENST00000395035.3_Missense_Mutation_p.D175H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	175	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TACTGAGTATCTCCCACAAGA	0.473000													6	162					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42565480	42565480	+	Silent	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:42565480C>A	ENST00000389834.4	-	1	381	c.117G>T	c.(115-117)cgG>cgT	p.R39R	TMEM87A_ENST00000307216.6_Silent_p.R39R|TMEM87A_ENST00000448392.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	39						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GCCATTTGGACCGGTCGGCAG	0.582000													33	4					4.11147e-13	4.52618e-13	1	1	0
SEC31A	22872	broad.mit.edu	37	4	83801984	83801984	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:83801984C>T	ENST00000432794.1	-	3	334	c.171G>A	c.(169-171)atG>atA	p.M57I	SEC31A_ENST00000500777.2_Missense_Mutation_p.M57I|SEC31A_ENST00000448323.1_Missense_Mutation_p.M57I|SEC31A_ENST00000355196.2_Missense_Mutation_p.M57I|SEC31A_ENST00000505984.1_Missense_Mutation_p.M57I|SEC31A_ENST00000513858.1_Missense_Mutation_p.M57I|SEC31A_ENST00000326950.5_Missense_Mutation_p.M57I|SEC31A_ENST00000509142.1_Missense_Mutation_p.M57I|SEC31A_ENST00000508502.1_Missense_Mutation_p.M57I|SEC31A_ENST00000395310.2_Missense_Mutation_p.M57I|SEC31A_ENST00000443462.2_Missense_Mutation_p.M52I|SEC31A_ENST00000311785.7_Missense_Mutation_p.M57I|SEC31A_ENST00000508479.1_Missense_Mutation_p.M57I|SEC31A_ENST00000348405.4_Missense_Mutation_p.M57I|SEC31A_ENST00000505472.1_Missense_Mutation_p.M57I|SEC31A_ENST00000436790.2_5'UTR			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	57					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CACAAGATTTCATATCCAAGG	0.348000													15	321					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66136172	66136172	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:66136172C>T	ENST00000360689.5	+	7	2536	c.809C>T	c.(808-810)tCt>tTt	p.S270F	FUT8_ENST00000358307.2_Missense_Mutation_p.S141F|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.S270F|FUT8_ENST00000417683.1_Silent_p.I5I|FUT8_ENST00000557164.1_Missense_Mutation_p.S107F|FUT8_ENST00000394586.2_Missense_Mutation_p.S270F	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	270					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.S270F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACAGACAGATCTGGCATCTCC	0.468000													38	35					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670665	134670665	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:134670665C>T	ENST00000398015.3	+	3	946	c.576C>T	c.(574-576)ttC>ttT	p.F192F	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	192	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCGTGTCTTCTTCAAAAAGT	0.473000													15	230					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127684031	127684031	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:127684031C>G	ENST00000373555.4	-	9	1035	c.702G>C	c.(700-702)caG>caC	p.Q234H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	234						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGTAGTGTCTCTGCAATTCTT	0.493000													20	250					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403936	95403936	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:95403936G>A	ENST00000336148.5	-	10	1834	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTTGAAGGCAGAACCTGACAA	0.403000								Direct reversal of damage;Homologous recombination					23	186					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960810	37960810	+	Splice_Site	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:37960810G>A	ENST00000199448.4	+	1	648	c.269G>A	c.(268-270)aGa>aAa	p.R90K	EPDR1_ENST00000559325.1_Splice_Site_p.R210K|EPDR1_ENST00000423717.1_Splice_Site_p.R90K|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	90					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCCTGCAAGAGGTACAGGTCA	0.697000													4	48					0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71616252	71616252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:71616252C>T	ENST00000380639.5	+	1	59	c.43C>T	c.(43-45)Cga>Tga	p.R15*	PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R15*|PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R15*	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627000													22	47					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498964	31498964	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:31498964C>G	ENST00000330498.3	+	7	788	c.769C>G	c.(769-771)Cga>Gga	p.R257G	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	257					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CTTCTGCTATCGACCCCGGCC	0.647000													5	38					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327530	74327530	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:74327530G>A	ENST00000569477.1	+	8	1850	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000354026.6_Silent_p.E528E|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Silent_p.E576E|PML_ENST00000435786.2_3'UTR|PML_ENST00000563500.1_3'UTR			P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCCCATGGAGACCGCCGAGC	0.612000			T	"""RARA, PAX5"""	"""APL, ALL"""								8	228					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60269474	60269474	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:60269474C>G	ENST00000016913.4	+	4	490	c.433C>G	c.(433-435)Ctc>Gtc	p.L145V	MS4A12_ENST00000537076.1_Missense_Mutation_p.L99V	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	145						integral to membrane	receptor activity	p.L145I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CTCTGGCTCTCTCTCTGTGTC	0.393000													12	166					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158495659	158495659	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:158495659C>T	ENST00000355585.4	+	16	2256	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	SYNJ2_ENST00000367121.3_Silent_p.F727F|SYNJ2_ENST00000367122.2_Silent_p.F727F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	727							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTGGCGATTTCAACTACCGCA	0.363000													38	16					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79950579	79950579	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:79950579C>G	ENST00000265081.6	+	1	113	c.33C>G	c.(31-33)ctC>ctG	p.L11L	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	11					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGGGCGGCCTCGCTGCCTCCA	0.697000								Mismatch excision repair (MMR)					6	47					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157688969	157688969	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:157688969C>T	ENST00000502773.1	-	5	1367	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	PDGFC_ENST00000542208.1_Missense_Mutation_p.E138K|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.E130K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	293					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CATTGACATTCATTGCAATTG	0.403000													35	7					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117641162	117641162	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:117641162G>T	ENST00000368508.3	-	36	6007	c.5809C>A	c.(5809-5811)Ctt>Att	p.L1937I	ROS1_ENST00000368507.3_Missense_Mutation_p.L1931I|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1937					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)		AAGGCAGGAAGATTTTCAATC	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								28	12					1.77063e-15	1.96053e-15	1	1	0
KIF23	9493	broad.mit.edu	37	15	69728523	69728523	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:69728523G>C	ENST00000260363.4	+	13	1436	c.1319G>C	c.(1318-1320)aGa>aCa	p.R440T	KIF23_ENST00000559279.1_Missense_Mutation_p.R440T|KIF23_ENST00000395392.2_Missense_Mutation_p.R440T|KIF23_ENST00000537891.1_Missense_Mutation_p.R257T|KIF23_ENST00000558585.1_Missense_Mutation_p.R257T|KIF23_ENST00000352331.4_Missense_Mutation_p.R440T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	440					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GAAGTAGCAAGACCTGTAGAC	0.403000													18	53					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55185598	55185598	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:55185598C>G	ENST00000425133.2	-	2	122	c.84G>C	c.(82-84)aaG>aaC	p.K28N	FAM104B_ENST00000358460.4_Missense_Mutation_p.K28N|FAM104B_ENST00000489298.1_Missense_Mutation_p.K27N|FAM104B_ENST00000332132.4_Missense_Mutation_p.K28N|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000477847.2_Missense_Mutation_p.K25N|FAM104B_ENST00000472571.2_Missense_Mutation_p.K28N	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	28										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TAGGGTTTCTCTTATTCCTTT	0.373000													5	18					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510707	102510707	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:102510707G>C	ENST00000360184.4	+	71	12945	c.12781G>C	c.(12781-12783)Gac>Cac	p.D4261H	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4261					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAACGAGTTTGACCAGCGTCT	0.537000													3	37					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186026401	186026401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:186026401G>T	ENST00000271588.4	+	46	7409	c.7180G>T	c.(7180-7182)Gaa>Taa	p.E2394*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E2394*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2394	Ig-like C2-type 22.				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						CAGGTCACCTGAAAATATTAG	0.398000													4	48					0.00909568	0.00925313	1	1	0
SLC19A2	10560	broad.mit.edu	37	1	169439357	169439357	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:169439357G>C	ENST00000236137.5	-	3	1111	c.875C>G	c.(874-876)tCt>tGt	p.S292C	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S91C	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	292					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AAGAGGGCGAGAGGAGTAGCA	0.488000													5	99					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95653664	95653664	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:95653664C>T	ENST00000433389.2	+	1	308	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	ESRP1_ENST00000454170.2_Silent_p.L40L|ESRP1_ENST00000423620.2_Silent_p.L40L|ESRP1_ENST00000358397.5_Silent_p.L40L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	40					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.L40L(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGTCGTGGATCTGGCCAACAA	0.527000													25	65					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761081	48761081	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:48761081G>C	ENST00000285238.8	+	27	3998	c.3918G>C	c.(3916-3918)ctG>ctC	p.L1306L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1306	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACCTGGTGCTGAGAGACCTGA	0.642000													10	119					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541769	12541769	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:12541769G>C	ENST00000301547.5	-	4	1414	c.1217C>G	c.(1216-1218)tCa>tGa	p.S406*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	406					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCGAAAGCTTGAGCGATGAGA	0.418000													42	100					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685507	53685507	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:53685507C>G	ENST00000257934.4	+	26	5645	c.5554C>G	c.(5554-5556)Cag>Gag	p.Q1852E	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q1852E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1852					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCACCCCTCAGGACATTCA	0.587000													81	175					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998204	27998204	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:27998204G>A	ENST00000441525.1	-	1	1362	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	416										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGTTGAAGAGGTAAATAT	0.428000													28	5					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153258983	153258983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:153258983G>A	ENST00000281708.4	-	5	2061	c.832C>T	c.(832-834)Cga>Tga	p.R278*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R278*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R278*|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R102*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R198*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R160*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	278	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R278*(9)|p.R39*(1)|p.?(1)|p.R198*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAGTCTCGTTGAAACTGG	0.353000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								29	7					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326598	158326598	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:158326598C>G	ENST00000444681.2	+	5	1075	c.782C>G	c.(781-783)tCa>tGa	p.S261*	CD1E_ENST00000368163.3_Nonsense_Mutation_p.S293*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.S348*|CD1E_ENST00000368157.1_Nonsense_Mutation_p.S104*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Nonsense_Mutation_p.S171*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.S360*|CD1E_ENST00000368154.1_Nonsense_Mutation_p.S116*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.S203*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.S258*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.S270*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.S159*	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	360	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCAAGAATTCAAGACATCAG	0.448000													54	56					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75146305	75146305	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:75146305G>C	ENST00000300051.4	-	11	1519	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	LDHD_ENST00000450168.2_Silent_p.L468L	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	491							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GCACGGCCTTGAGCTGCCGCA	0.637000													5	25					0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116045011	116045011	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:116045011G>C	ENST00000374199.4	+	4	879	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	PRPF4_ENST00000488937.1_3'UTR|PRPF4_ENST00000374198.4_Missense_Mutation_p.E161Q			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	161						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTCCAAAGAAGAGGTAGAACA	0.358000													10	28					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809764	5809764	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:5809764C>T	ENST00000317078.1	-	1	282	c.283G>A	c.(283-285)Gat>Aat	p.D95N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D95N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCTTTAAAATCAATCTCCTTG	0.502000													66	92					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145508209	145508209	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:145508209G>C	ENST00000330165.8	+	3	199	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RBM8A_ENST00000369307.3_Splice_Site	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTATAGAAGAGGGGTCCCG	0.547000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	77					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40270417	40270417	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:40270417G>A	ENST00000225916.5	-	7	1131	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	360					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGCATGGACAGGAATCTGTAG	0.607000													9	72					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294745	124294745	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:124294745G>A	ENST00000356130.3	-	1	44	c.23C>T	c.(22-24)tCa>tTa	p.S8L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCAGTCACTGAGGAGCTGTT	0.493000													4	66					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780291	24780291	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24780291C>T	ENST00000528054.1	+	1	2131	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.L141L|CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.L141L|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	172					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGCCCGCCGCCTGCTGCTGGC	0.756000													10	31					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7685744	7685744	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:7685744C>T	ENST00000358368.4	-	14	1996	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	XAB2_ENST00000534844.1_Silent_p.Q650Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	653					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAATGGCCTTCTGGTAGATGC	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)					5	29					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990745	20990745	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:20990745G>C	ENST00000261383.3	-	50	7982	c.7983C>G	c.(7981-7983)ttC>ttG	p.F2661L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2661	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGCGTCTTGAAGGTTAGAA	0.473000													9	40					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152549243	152549243	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:152549243C>T	ENST00000256001.8	+	10	1118	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ACTR3B_ENST00000537264.1_Silent_p.F240F|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.F240F	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	328					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CCACCATGTTCAGGGATTTCG	0.587000													12	115					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592102	6592102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:6592102C>T	ENST00000254579.6	+	42	13924	c.13360C>T	c.(13360-13362)Cag>Tag	p.Q4454*	DNHD1_ENST00000527990.2_Nonsense_Mutation_p.Q4454*	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4454					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGAGTCACTGCAGGATCTGCT	0.632000													10	83					0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18640584	18640584	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:18640584C>T	ENST00000215794.7	+	2	584	c.154C>T	c.(154-156)Cat>Tat	p.H52Y		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	52					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GGACTACCCTCATGGTCATTA	0.552000													63	157					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4920906	4920906	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:4920906G>C	ENST00000396658.4	+	10	2195	c.1492G>C	c.(1492-1494)Gat>Cat	p.D498H	UBN1_ENST00000262376.6_Missense_Mutation_p.D498H|UBN1_ENST00000590769.1_Missense_Mutation_p.D498H|UBN1_ENST00000545171.1_Missense_Mutation_p.D498H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	498					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAGGAAGAAGATGAAGAAAA	0.517000													29	5					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120638874	120638874	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:120638874G>C	ENST00000427067.2	-	3	391	c.211C>G	c.(211-213)Cgc>Ggc	p.R71G	ENPP2_ENST00000259486.6_Missense_Mutation_p.R75G|ENPP2_ENST00000522826.1_Missense_Mutation_p.R75G|ENPP2_ENST00000075322.6_Missense_Mutation_p.R75G			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	75	SMB 1.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGTCACAGCGACAATCAGGA	0.483000													5	60					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179263460	179263460	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:179263460C>T	ENST00000389805.4	+	8	1368	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	SQSTM1_ENST00000376929.3_Missense_Mutation_p.S313F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S313F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S313F|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000510187.1_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	397	Interaction with NTRK1 (By similarity).|UBA.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATTGAGTCCCTCTCCCAG	0.592000													24	208					0	0	1	0	0
SELV	348303	broad.mit.edu	37	19	40009765	40009765	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:40009765G>A	ENST00000423711.1	+	6	1118	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	SELV_ENST00000335426.4_Missense_Mutation_p.D340N			P59797	SELV_HUMAN		340					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCGTTATCGATGAGGAAAT	0.597000													26	32					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36113576	36113576	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:36113576G>A	ENST00000203166.5	+	18	1750	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	575					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGAGGCTGGAGAAGCTACTGA	0.582000													31	44					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87041239	87041239	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:87041239G>A	ENST00000370563.3	+	11	1950	c.1908G>A	c.(1906-1908)caG>caA	p.Q636Q	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	636						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGAATCACAGAATGGACATA	0.378000													16	85					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563932	75563932	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:75563932C>T	ENST00000336257.3	-	3	1745	c.351G>A	c.(349-351)ctG>ctA	p.L117L	CHST5_ENST00000541075.1_Silent_p.L123L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	117					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TAGAGCGCATCAGGTCGCGCA	0.617000													61	15					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111795591	111795591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:111795591G>A	ENST00000374586.3	-	17	2621	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	864						integral to membrane											ACTCACCGCTGAGGCTGAGCA	0.443000													23	171					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576858	28576858	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:28576858G>A	ENST00000434452.1	-	15	2546	c.2392C>T	c.(2392-2394)Cat>Tat	p.H798Y	DSC3_ENST00000360428.4_Missense_Mutation_p.H798Y	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	798					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGGGTATGATGATGCCCAGCC	0.527000													35	61					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77378139	77378139	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:77378139C>G	ENST00000308488.6	-	16	4451	c.4149G>C	c.(4147-4149)ttG>ttC	p.L1383F	RSF1_ENST00000480887.1_Missense_Mutation_p.L1131F|RSF1_ENST00000360355.2_Missense_Mutation_p.L1352F			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1383					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCTTGCCAATCAAGTTCTCAA	0.522000													42	58					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150930306	150930306	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:150930306G>C	ENST00000261800.5	-	7	4435	c.4423C>G	c.(4423-4425)Caa>Gaa	p.Q1475E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1475	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTTGTCTTGATCTATGGCC	0.552000													4	52					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22673296	22673296	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:22673296C>T	ENST00000426066.1	+	0	990				IGLV5-52_ENST00000390289.2_RNA	NR_027293.1																						TCTTCCCATTCTGCATCTTCT	0.517000													24	371					0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24707568	24707568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24707568G>T	ENST00000557854.1	+	8	1145	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	GMPR2_ENST00000399440.2_Nonsense_Mutation_p.E272*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.E244*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.E272*|GMPR2_ENST00000559104.1_Nonsense_Mutation_p.E257*|GMPR2_ENST00000355299.4_Nonsense_Mutation_p.E272*|GMPR2_ENST00000420554.2_Nonsense_Mutation_p.E290*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.E272*|GMPR2_ENST00000559910.1_Nonsense_Mutation_p.E239*	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	272					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AATGAGTTCTGAAATGGCCAT	0.532000													9	175					0.0581538	0.0583064	1	1	0
PSG7	5676	broad.mit.edu	37	19	43428961	43428961	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:43428961C>T	ENST00000406070.2	-	0	1355					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tagtagaattcagggtaatgt	0.408000													44	33					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015489	56015489	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:56015489C>T	ENST00000327381.6	+	1	541	c.441C>T	c.(439-441)ctC>ctT	p.L147L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGTTCGGGCTCACGCTCTTCT	0.657000													41	48					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20117287	20117287	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:20117287G>A	ENST00000396085.1	+	31	6356	c.5995G>A	c.(5995-5997)Gat>Aat	p.D1999N	NAV2_ENST00000311043.8_Missense_Mutation_p.D1060N|NAV2_ENST00000540292.1_Missense_Mutation_p.D1986N|NAV2_ENST00000360655.4_Missense_Mutation_p.D1932N|NAV2_ENST00000527559.2_Missense_Mutation_p.D1984N|NAV2_ENST00000396087.3_Missense_Mutation_p.D2055N|NAV2_ENST00000533917.1_Missense_Mutation_p.D1060N|NAV2_ENST00000349880.4_Missense_Mutation_p.D1996N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2055						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGATGTGCTCGATGGGGTGGT	0.483000													23	187					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344609	23344609	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:23344609G>A	ENST00000359591.4	+	5	1143	c.452G>A	c.(451-453)cGc>cAc	p.R151H	LRP10_ENST00000546834.1_Missense_Mutation_p.R151H	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	151	LDL-receptor class A 1.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGAACCACCGCTGTGTATCT	0.592000													19	249					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729981	62729981	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:62729981C>G	ENST00000349451.3	+	6	1354	c.942C>G	c.(940-942)ctC>ctG	p.L314L	OPRL1_ENST00000336866.2_Silent_p.L314L|OPRL1_ENST00000355631.4_Silent_p.L314L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	314					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ACAGCTGCCTCAACCCCATCC	0.632000													13	58					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482574	94482574	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:94482574G>A	ENST00000377047.4	+	3	1102	c.487G>A	c.(487-489)Gac>Aac	p.D163N	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	163						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AATGCTCAATGACTTTTGGGC	0.463000													29	60					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39854050	39854050	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:39854050C>A	ENST00000564288.1	+	58	16313	c.15536C>A	c.(15535-15537)tCt>tAt	p.S5179Y	MACF1_ENST00000545844.1_Missense_Mutation_p.S3117Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S3117Y|MACF1_ENST00000372915.3_Missense_Mutation_p.S5184Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S3096Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S3117Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S3619Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S5216Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5184					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGAGGCCTCTGAAGCAGAG	0.473000													17	34					3.45872e-05	3.62975e-05	1	1	0
SPTB	6710	broad.mit.edu	37	14	65268016	65268016	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:65268016G>A	ENST00000389722.3	-	6	803	c.750C>T	c.(748-750)ctC>ctT	p.L250L	SPTB_ENST00000389721.5_Silent_p.L250L|SPTB_ENST00000389720.3_Silent_p.L250L|SPTB_ENST00000556626.1_Silent_p.L250L|SPTB_ENST00000542895.1_Silent_p.L250L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	250	Actin-binding.|CH 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGGGGTCGAGGAGCGGGATGA	0.617000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	30					0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85866454	85866454	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:85866454C>T	ENST00000323701.6	+	9	1234	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	USP39_ENST00000409766.3_Silent_p.L408L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Silent_p.L305L|USP39_ENST00000409470.1_Silent_p.L408L|USP39_ENST00000409025.1_Silent_p.L408L	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	408					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGAGCAGCTCATCATTCCCC	0.507000													33	67					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34685421	34685421	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:34685421C>T	ENST00000544216.3	+	2	237	c.160C>T	c.(160-162)Cca>Tca	p.P54S	LSM14A_ENST00000433627.5_Missense_Mutation_p.P54S|LSM14A_ENST00000540746.2_Missense_Mutation_p.P54S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	54					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GACAGATCGTCCAATACCACC	0.428000													61	76					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184182435	184182435	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:184182435C>T	ENST00000403733.3	+	11	1858	c.1659C>T	c.(1657-1659)tcC>tcT	p.S553S	WWC2_ENST00000448232.2_Silent_p.S553S|WWC2_ENST00000504005.1_Silent_p.S235S|WWC2_ENST00000378925.3_Silent_p.S455S|WWC2_ENST00000513834.1_Silent_p.S553S	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	553										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCTCCCTTTCCTCCTTGTCTC	0.572000													8	5					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104302628	104302628	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:104302628G>A	ENST00000389120.3	+	3	363	c.273G>A	c.(271-273)ttG>ttA	p.L91L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	91					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCTCACTATTGATTGTCAACC	0.413000													10	124					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915340	48915340	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:48915340C>T	ENST00000294954.7	-	11	1617	c.1596G>A	c.(1594-1596)ctG>ctA	p.L532L	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Silent_p.L505L|LHCGR_ENST00000344775.3_Silent_p.L470L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	532					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CATTGAGAATCAGGATGGTTA	0.388000													10	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455520	179455520	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:179455520C>G	ENST00000589042.1	-	304	61156	c.60932G>C	c.(60931-60933)cGa>cCa	p.R20311P	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17743P|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11438P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11371P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18670P|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11246P|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18670	Ig-like 111.						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)			AGTTACTTCTCGACGTTCCAT	0.443000													12	43					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361548	105361548	+	Missense_Mutation	SNP	A	A	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:105361548A>C	ENST00000297581.2	+	2	817	c.768A>C	c.(766-768)gaA>gaC	p.E256D	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.E256D|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	256					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AGTTTGATGAAAGGGAGAGAC	0.473000													32	56					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23974048	23974048	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:23974048C>T	ENST00000317749.5	-	1	460	c.163G>A	c.(163-165)Gag>Aag	p.E55K	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	55										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTTGGCCCTCCGTGGCTCCC	0.537000													55	101					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176817	140176817	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:140176817G>T	ENST00000526136.1	+	1	2268	c.2268G>T	c.(2266-2268)caG>caT	p.Q756H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q756H|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q756H	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGCGGCAGAGGGTGTGCT	0.657000													12	99					1.5842e-08	1.734e-08	1	1	0
RWDD1	51389	broad.mit.edu	37	6	116914254	116914254	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:116914254C>T	ENST00000466444.2	+	7	938	c.722C>T	c.(721-723)tCa>tTa	p.S241L	RWDD1_ENST00000392526.1_Missense_Mutation_p.S145L|RWDD1_ENST00000487832.2_Missense_Mutation_p.S145L	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	241							protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		GAGAGTGACTCAGCTGACTAA	0.463000													20	15					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39293454	39293454	+	Missense_Mutation	SNP	C	C	A	rs138977425		TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:39293454C>A	ENST00000381897.1	-	23	3109	c.2976G>T	c.(2974-2976)agG>agT	p.R992S	RFC1_ENST00000349703.2_Missense_Mutation_p.R991S	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	992					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTTTACAGTCCTTTTGCTGG	0.423000													22	48					3.5997e-14	3.97423e-14	1	1	0
RASA3	22821	broad.mit.edu	37	13	114817554	114817554	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:114817554C>G	ENST00000334062.7	-	3	371	c.250G>C	c.(250-252)Gac>Cac	p.D84H	RASA3_ENST00000542651.1_Missense_Mutation_p.D84H|RASA3_ENST00000389544.4_Missense_Mutation_p.D52H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	84	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGAAAACGTCTCTATCGAAA	0.453000													17	33					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066769	30066769	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:30066769C>T	ENST00000331968.5	-	16	2591	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D796N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	788	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCGTGTATGTCTTCATCTTCA	0.403000													58	64					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100806354	100806354	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:100806354C>T	ENST00000249330.2	-	2	2010	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	VGF_ENST00000445482.2_Missense_Mutation_p.E591K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	591					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCTCCGCCTCCGCCTCCTCC	0.751000													7	39					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41891692	41891692	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:41891692C>G	ENST00000398393.1	-	13	1382	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Missense_Mutation_p.E349D			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	349					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CACCCAGTCTCTCCCTACAGC	0.612000													103	20					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492110	103492110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:103492110C>T	ENST00000602836.1	+	9	1321	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000257336.1_Silent_p.F469F|BIVM_ENST00000448849.2_Silent_p.F247F	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.F469F(1)									GCCGGTCTTTCAGTGCTAGTT	0.473000													55	142					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968639	69968639	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:69968639G>C	ENST00000299293.2	+	10	1941	c.1431G>C	c.(1429-1431)gaG>gaC	p.E477D	FRS2_ENST00000550389.1_Missense_Mutation_p.E477D|FRS2_ENST00000549921.1_Missense_Mutation_p.E477D|FRS2_ENST00000397997.2_Missense_Mutation_p.E477D	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	477					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGACATCGAGAGAACTGCTG	0.493000													12	113					0	0	1	0	0
HMCES	56941	broad.mit.edu	37	3	129023437	129023437	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:129023437C>G	ENST00000383463.4	+	7	923	c.834C>G	c.(832-834)ctC>ctG	p.L278L	HMCES_ENST00000389735.3_Silent_p.L278L|HMCES_ENST00000417226.2_Silent_p.L236L|HMCES_ENST00000502878.2_Silent_p.L278L	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	278																	TGTAGGAGCTCAGGGCAAGTG	0.473000													18	162					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901282	102901282	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:102901282G>C	ENST00000359520.7	+	9	2354	c.2128G>C	c.(2128-2130)Gaa>Caa	p.E710Q	TECPR2_ENST00000558678.1_Missense_Mutation_p.E710Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	710							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGGTCAGAAAGAAATACCCAT	0.567000													19	82					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695846	40695846	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:40695846G>A	ENST00000225927.2	+	6	1923	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	608						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GGCACTGGACGAGGTGCTGGC	0.632000													13	0					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43348708	43348708	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:43348708C>G	ENST00000372868.2	+	3	574	c.231C>G	c.(229-231)gtC>gtG	p.V77V	RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Silent_p.V77V|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.V77V|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	77	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AGGGCCTGGTCTGCCAGCCCG	0.716000													7	12					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258381	9258381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:9258381G>T	ENST00000262126.4	+	9	5356	c.5116G>T	c.(5116-5118)Gaa>Taa	p.E1706*	ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E1683*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E1683*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AACTCAACCAGAAATGCATAA	0.343000													5	65					3.59834e-05	3.76078e-05	1	1	0
USP48	84196	broad.mit.edu	37	1	22032653	22032653	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:22032653G>T	ENST00000308271.9	-	18	2887	c.2239C>A	c.(2239-2241)Cag>Aag	p.Q747K	USP48_ENST00000400301.1_Missense_Mutation_p.Q747K|USP48_ENST00000374732.3_Missense_Mutation_p.Q285K|USP48_ENST00000529637.1_Missense_Mutation_p.Q759K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	747	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ACAAAGAACTGAGACACGATG	0.343000													21	38					3.28513e-13	3.6217e-13	1	1	0
TOR3A	64222	broad.mit.edu	37	1	179057214	179057214	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:179057214C>T	ENST00000367627.3	+	4	1560	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TOR3A_ENST00000352445.6_Silent_p.L270L|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	270					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GACTATCTTTCTGTTTCTCAG	0.607000													54	57					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337402	22337402	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:22337402C>T	ENST00000390436.2	+	0	216																											AGGACCTCAGCTTATTATAGA	0.428000													18	409					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9452729	9452729	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:9452729G>A	ENST00000393883.2	+	6	1250	c.602G>A	c.(601-603)aGa>aAa	p.R201K	ZNF559_ENST00000587557.1_Missense_Mutation_p.R265K|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R201K|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R121K|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000317221.7_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TCACACCTCAGAGAATGTGTA	0.388000													9	99					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53907122	53907122	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:53907122C>G	ENST00000335754.3	-	9	1198	c.1098G>C	c.(1096-1098)caG>caC	p.Q366H	ACTR8_ENST00000231909.7_Missense_Mutation_p.Q71H|ACTR8_ENST00000482349.1_Missense_Mutation_p.Q255H	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	366					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GATGTCGAATCTGAAACTCAT	0.413000													3	8					0	0	1	0	0
CCNO	10309	broad.mit.edu	37	5	54528309	54528309	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:54528309G>C	ENST00000282572.4	-	2	603	c.447C>G	c.(445-447)ctC>ctG	p.L149L		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	149					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			ACTCGAAGGAGAGGCCGAATT	0.672000													10	82					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132211500	132211500	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:132211500C>T	ENST00000360971.2	+	25	2647	c.2627C>T	c.(2626-2628)tCa>tTa	p.S876L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	876	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CATGACTCCTCATGGGTTGAA	0.408000													36	15					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300254	101300254	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:101300254G>A	ENST00000519449.1	-	3	465	c.149C>T	c.(148-150)tCt>tTt	p.S50F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S50F	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	50					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAAGCTCACAGATGAAGCAGA	0.408000													8	42					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789232	27789232	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr16:27789232G>A	ENST00000261588.4	+	27	4762	c.4743G>A	c.(4741-4743)atG>atA	p.M1581I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1581										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATGTCCAGATGATGAATGAAA	0.522000													24	17					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24710511	24710511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:24710511C>A	ENST00000399423.4	-	4	736	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	TINF2_ENST00000267415.7_Nonsense_Mutation_p.E136*|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Nonsense_Mutation_p.E101*|TINF2_ENST00000538777.1_Intron	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	136					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TACTCTTGTTCAAGTTCCTAC	0.552000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				42	200					1.57019e-19	1.75128e-19	1	1	0
FAM71A	149647	broad.mit.edu	37	1	212798814	212798814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:212798814C>T	ENST00000294829.3	+	1	1026	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	199										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCCTGTGTTTCAGGAAGACAG	0.527000													40	75					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520356	23520356	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:23520356G>C	ENST00000374619.1	-	1	866	c.357C>G	c.(355-357)atC>atG	p.I119M	HTR1D_ENST00000314113.3_Missense_Mutation_p.I119M	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	119					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCAGCACGTGATGTCAGAGG	0.522000													14	72					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34787221	34787221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:34787221C>T	ENST00000290219.6	+	2	748	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.Q53*|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	34	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GCCCGCTCCTCAGCACCCGAA	0.527000													7	24					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220145384	220145384	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:220145384C>T	ENST00000336576.5	+	3	438	c.150C>T	c.(148-150)gcC>gcT	p.A50A	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Silent_p.A50A	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	50	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTGGCCGAGGCATATG	0.517000													7	8					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44485334	44485334	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:44485334C>T	ENST00000398165.3	-	8	974	c.715G>A	c.(715-717)Gag>Aag	p.E239K	CBS_ENST00000398168.1_Missense_Mutation_p.E239K|CBS_ENST00000352178.5_Missense_Mutation_p.E239K|CBS_ENST00000359624.3_Missense_Mutation_p.E239K|CBS_ENST00000544202.1_Missense_Mutation_p.E151K|CBS_ENST00000398158.1_Missense_Mutation_p.E239K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	239			E -> K (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGCAGGATCTCATCAGCGGTG	0.572000													9	52					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77607199	77607199	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:77607199C>A	ENST00000461745.1	+	9	2236	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ROBO2_ENST00000487694.3_Missense_Mutation_p.L462I|ROBO2_ENST00000332191.8_Missense_Mutation_p.L446I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	446	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTGATCCTCTTCCTGTAAT	0.453000													9	87					1.12685e-05	1.19075e-05	1	1	0
IL12B	3593	broad.mit.edu	37	5	158745759	158745759	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:158745759C>T	ENST00000231228.2	-	6	1295	c.840G>A	c.(838-840)aaG>aaA	p.K280K		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	280	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCTTGCTCTTGCCCTGGA	0.473000													31	38					0	0	1	0	0
WDR73	84942	broad.mit.edu	37	15	85191833	85191833	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:85191833G>A	ENST00000434634.2	-	4	282	c.222C>T	c.(220-222)ttC>ttT	p.F74F	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	74										cervix(1)|large_intestine(1)|lung(1)	3						GGCGCACTTTGAAATCTCTTT	0.433000													12	106					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2343250	2343250	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:2343250C>G	ENST00000290974.2	-	3	612	c.273G>C	c.(271-273)gaG>gaC	p.E91D	ZFYVE28_ENST00000509171.1_Missense_Mutation_p.E44D|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E91D|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E21D|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.E91D|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.E21D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	91					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CGTGCCGGATCTCCTCAGGGA	0.597000													10	51					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337919	37337919	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:37337919C>T	ENST00000373091.3	-	4	618	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R201H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	201					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GATCTTCAGGCGGATGTTGTA	0.567000													9	110					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20475898	20475898	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:20475898C>T	ENST00000202677.7	-	36	5237	c.5230G>A	c.(5230-5232)Gag>Aag	p.E1744K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)		Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATATGGACCTCGTCATTCCCC	0.423000													16	115					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11703196	11703196	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:11703196G>C	ENST00000353047.6	-	9	1149	c.896C>G	c.(895-897)tCc>tGc	p.S299C	CTSB_ENST00000533455.1_Missense_Mutation_p.S299C|CTSB_ENST00000531089.1_Missense_Mutation_p.S299C|CTSB_ENST00000534510.1_Missense_Mutation_p.S299C|CTSB_ENST00000434271.1_Missense_Mutation_p.S299C|CTSB_ENST00000345125.3_Missense_Mutation_p.S299C|CTSB_ENST00000530640.2_Missense_Mutation_p.S299C|CTSB_ENST00000453527.2_Missense_Mutation_p.S299C|CTSB_ENST00000415599.2_3'UTR	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	299					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		AGTGTTCCAGGAGTTGGCAAC	0.592000													6	38					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118590200	118590200	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:118590200C>G	ENST00000392533.3	-	20	2857	c.2367G>C	c.(2365-2367)gaG>gaC	p.E789D	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.E329D|TAOK3_ENST00000419821.2_Missense_Mutation_p.E789D|TAOK3_ENST00000536979.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	789					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCTTGAGCCTCATCTAGCC	0.547000													10	82					0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8887448	8887448	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:8887448C>T	ENST00000523898.1	+	8	1633	c.954C>T	c.(952-954)atC>atT	p.I318I	ERI1_ENST00000250263.7_Silent_p.I318I|ERI1_ENST00000520332.1_Intron|ERI1_ENST00000519292.1_Silent_p.I318I			Q8IV48	ERI1_HUMAN	exoribonuclease 1	318					gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	AACTCCGAATCAACGAGAAAA	0.463000													12	68					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307249	14307249	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:14307249G>C	ENST00000378053.3	-	2	1160	c.904C>G	c.(904-906)Ctt>Gtt	p.L302V	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.L302V|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	302					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTGTTGCGAAGAATCAGTTGT	0.428000													7	109					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186044020	186044020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:186044020C>T	ENST00000271588.4	+	53	8516	c.8287C>T	c.(8287-8289)Caa>Taa	p.Q2763*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q2763*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2763	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q2763E(1)		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						TGTGAATATTCAAGGTAATAC	0.294000													17	29					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17111392	17111392	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:17111392G>C	ENST00000265970.7	-	32	4953	c.4954C>G	c.(4954-4956)Ctg>Gtg	p.L1652V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1272V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1652	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTCTCCCGCAGAGATTCTGCA	0.413000													118	166					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850112	58850112	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:58850112G>A	ENST00000329665.4	+	3	1043	c.896G>A	c.(895-897)aGc>aAc	p.S299N		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	299					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TATGCCTGCAGCGAGTGTGGG	0.597000													35	187					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952090	22952090	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:22952090C>A	ENST00000397104.3	-	2	102	c.103G>T	c.(103-105)Gct>Tct	p.A35S	ZNF99_ENST00000596209.1_Missense_Mutation_p.A14S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCTCCAGAGCGAATTCTATG	0.408000													46	58					3.77016e-25	4.22966e-25	1	1	0
OTUD6B	51633	broad.mit.edu	37	8	92086094	92086094	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:92086094G>C	ENST00000285420.4	+	3	459	c.360G>C	c.(358-360)gtG>gtC	p.V120V	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	90										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CAAACTTGGTGCTTGAGAATC	0.333000													6	9					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810776	47810776	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:47810776C>G	ENST00000285106.6	-	9	1891	c.1177G>C	c.(1177-1179)Gat>Cat	p.D393H	CXXC1_ENST00000412036.2_Missense_Mutation_p.D397H|CXXC1_ENST00000589940.1_Missense_Mutation_p.D393H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	393					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCACAGTCATCTGAGCAATAC	0.607000													11	150					0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141524152	141524152	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:141524152C>G	ENST00000253814.4	+	7	1049	c.579C>G	c.(577-579)ctC>ctG	p.L193L		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	193					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTTTCTCAGAGGATTTA	0.353000													48	79					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186503753	186503753	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:186503753G>A	ENST00000323963.5	+	5	494	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	EIF4A2_ENST00000440191.2_Missense_Mutation_p.E145K|EIF4A2_ENST00000356531.5_Missense_Mutation_p.E49K			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	144	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTTCGAAATGAAATGCAAAA	0.408000			T	BCL6	NHL								11	83					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39228913	39228913	+	Splice_Site	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:39228913C>A	ENST00000328867.4	-	8	1273	c.965G>T	c.(964-966)tGg>tTg	p.W322L	CAPN12_ENST00000601953.1_Splice_Site_p.W173L	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	322	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ACGAACTGACCAGAACTCGCC	0.627000													3	45					1	1	1	1	0
PTGFR	5737	broad.mit.edu	37	1	79002359	79002359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:79002359C>A	ENST00000370757.3	+	3	1304	c.1067C>A	c.(1066-1068)tCa>tAa	p.S356*	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Nonsense_Mutation_p.S356*	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	356					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCAGAGAAATCAGCAAGCACC	0.383000													5	38					0.0215528	0.0218097	1	1	0
CTBP1	1487	broad.mit.edu	37	4	1232114	1232114	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:1232114G>C	ENST00000510568.1	-	2	610	c.19C>G	c.(19-21)Ccg>Gcg	p.P7A	CTBP1_ENST00000290921.6_Missense_Mutation_p.P18A|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000382952.3_Missense_Mutation_p.P7A			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	18	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TTCATGATCGGAGGTCGGACG	0.662000													4	82					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67579087	67579087	+	Missense_Mutation	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:67579087A>G	ENST00000310421.4	-	1	365	c.107T>C	c.(106-108)cTt>cCt	p.L36P		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	36					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	p.L36fs*51(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCGCTTCAAAAGCCCCCCCGA	0.682000													3	47					0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28186802	28186802	+	Splice_Site	SNP	T	T	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:28186802T>G	ENST00000301908.3	+	2	334		c.e2+2		RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin						neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GACCTGGAGGTAGGTCTCCAA	0.587000													37	48					0	0	1	0	0
TMEM33	55161	broad.mit.edu	37	4	41941391	41941391	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:41941391C>T	ENST00000504986.1	+	3	684	c.319C>T	c.(319-321)Cca>Tca	p.P107S	TMEM33_ENST00000325094.5_Missense_Mutation_p.P107S|TMEM33_ENST00000513702.1_Missense_Mutation_p.P107S	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	107						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						AAATTCCTATCCAGTTACAAG	0.398000													6	80					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900706	51900706	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:51900706G>A	ENST00000268919.4	+	1	468	c.312G>A	c.(310-312)tcG>tcA	p.S104S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S104S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGCCCTCTTCGGCCATCAGGG	0.612000													75	142					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169437885	169437885	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:169437885G>A	ENST00000236137.5	-	4	1456	c.1220C>T	c.(1219-1221)gCa>gTa	p.A407V	SLC19A2_ENST00000367804.4_Missense_Mutation_p.A206V	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	407					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TACATACGTTGCTATCGTGAT	0.353000													8	77					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379862	107379862	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:107379862C>G	ENST00000259362.1	-	1	623	c.624G>C	c.(622-624)ttG>ttC	p.L208F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCAGTGGCATCAATGTGAACA	0.428000													18	78					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119599210	119599210	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:119599210G>A	ENST00000264025.3	-	1	584	c.54C>T	c.(52-54)ctC>ctT	p.L18L	PVRL1_ENST00000341398.2_Silent_p.L18L|PVRL1_ENST00000340882.2_Silent_p.L18L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	18					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CGGTCAAGCCGAGAGCGAGTC	0.731000													13	25					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136547288	136547288	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:136547288C>T	ENST00000264162.2	-	16	5426	c.5416G>A	c.(5416-5418)Gag>Aag	p.E1806K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1806	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAAATCTCTCTGAAAAGCCT	0.507000													37	26					0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534697	6534697	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:6534697G>A	ENST00000245817.3	+	3	423	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	129					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTACAAAGAGGACACGAAGGA	0.622000													3	6					0	0	1	0	0
FEM1B	10116	broad.mit.edu	37	15	68582602	68582602	+	Silent	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:68582602T>C	ENST00000306917.4	+	2	1521	c.906T>C	c.(904-906)taT>taC	p.Y302Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	302					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCATGCTTATGGGAATAGAA	0.408000													11	118					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154746030	154746030	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:154746030G>T	ENST00000404141.1	-	16	2910	c.2756C>A	c.(2755-2757)tCt>tAt	p.S919Y	PAXIP1_ENST00000397192.1_Missense_Mutation_p.S919Y|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	919	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTCACGACAGAAATCGCCGT	0.507000													11	116					6.40141e-05	6.66305e-05	1	1	0
STIM1	6786	broad.mit.edu	37	11	4045120	4045120	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:4045120C>G	ENST00000300737.4	+	3	857	c.288C>G	c.(286-288)ctC>ctG	p.L96L	STIM1_ENST00000527651.1_Silent_p.L96L|STIM1_ENST00000527484.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	96	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGGAAGACCTCAATTACCATG	0.507000													9	66					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70839756	70839756	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:70839756G>A	ENST00000256366.4	-	4	471	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SYNJ2BP-COX16_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTACCATGGTGAGGGCAAACA	0.478000													6	96					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461528	5461528	+	Missense_Mutation	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:5461528T>C	ENST00000296564.7	+	13	2303	c.2081T>C	c.(2080-2082)aTa>aCa	p.I694T		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	694										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGTGTTCTATAGGAGGAAAC	0.383000													4	43					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28926018	28926018	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:28926018G>C	ENST00000257192.4	+	14	2169	c.1957G>C	c.(1957-1959)Gga>Cga	p.G653R	RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G12R|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	653					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAGAATGACAGGATTTGAACT	0.353000													32	68					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180031411	180031411	+	Silent	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:180031411G>T	ENST00000367607.3	+	26	5737	c.5319G>T	c.(5317-5319)ctG>ctT	p.L1773L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1773						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						AAAGACAGCTGATTCTTAAAC	0.408000													19	13					5.3912e-06	5.72067e-06	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	17					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480238	25480238	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:25480238C>G	ENST00000381884.4	-	7	2123	c.1938G>C	c.(1936-1938)gaG>gaC	p.E646D	CENPJ_ENST00000545981.1_Missense_Mutation_p.E646D	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	646					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CACTCTCCTTCTCACGTGCAG	0.483000													27	34					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60348753	60348753	+	RNA	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:60348753C>G	ENST00000581291.1	-	0	435																				breast(2)|kidney(1)|lung(2)	5						TTGATTTCCTCAATGTTCAGG	0.552000													8	91					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44949997	44949997	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:44949997G>A	ENST00000393461.2	+	2	245	c.192G>A	c.(190-192)caG>caA	p.Q64Q	WNT9B_ENST00000290015.2_Silent_p.Q64Q			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	64					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CCCGGCGGCAGAAGCAGCTCT	0.677000													7	96					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56319238	56319238	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:56319238C>G	ENST00000309964.4	-	14	1439	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	CLOCK_ENST00000513440.1_Missense_Mutation_p.E397Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E397Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	397					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCAGCTGTCTCAGGAAGAGAC	0.303000													20	70					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31191121	31191121	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:31191121G>C	ENST00000458591.2	+	22	1995	c.1768G>C	c.(1768-1770)Gag>Cag	p.E590Q	SCFD1_ENST00000544052.2_Missense_Mutation_p.E523Q|SCFD1_ENST00000396629.2_Missense_Mutation_p.E498Q|SCFD1_ENST00000421551.3_Missense_Mutation_p.E531Q|SCFD1_ENST00000541123.1_Missense_Mutation_p.E405Q	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	590					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCCATTCCAAGAGGTAAGTTT	0.333000													34	43					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186112326	186112326	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:186112326C>G	ENST00000458385.2	-	2	144	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	KIAA1430_ENST00000514798.1_Missense_Mutation_p.E9Q|KIAA1430_ENST00000296775.6_Missense_Mutation_p.E9Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	9										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACTTCACCTTCTAATATATCT	0.323000													5	2					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102595804	102595804	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:102595804G>A	ENST00000338488.4	+	5	2051	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	NR4A3_ENST00000395097.2_Intron|NR4A3_ENST00000330847.1_Intron	NM_173199.2	NP_775291.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	0	Ligand-binding (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTAGTAATAAGAGTTGATTGA	0.358000			T	EWSR1	extraskeletal myxoid chondrosarcoma								6	83					0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51318935	51318935	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:51318935C>T	ENST00000548553.1	+	2	1095	c.114C>T	c.(112-114)taC>taT	p.Y38Y	METTL7A_ENST00000332160.4_Silent_p.Y38Y			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	38						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GGTTCCCCTACTTCTTGGTGA	0.493000													10	99					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472254	44472254	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:44472254G>A	ENST00000217455.4	-	5	843	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	251					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GTGAGACCATGAAGTGCACCT	0.597000													38	23					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141359062	141359062	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:141359062C>G	ENST00000389484.3	-	42	7917	c.6946G>C	c.(6946-6948)Gaa>Caa	p.E2316Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2316					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTCATCTTCTGACATGGTG	0.428000										TSP Lung(27;0.18)			8	25					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77673132	77673132	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:77673132G>C	ENST00000407578.2	-	56	8423	c.8157C>G	c.(8155-8157)atC>atG	p.I2719M	MYCBP2_ENST00000360084.5_Missense_Mutation_p.I204M|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2681M|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I2681M	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2681	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAGATGTTGAGATGTTTCCTC	0.368000													9	92					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119626826	119626826	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:119626826C>T	ENST00000388822.5	+	10	1083	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	METTL14_ENST00000506780.1_Missense_Mutation_p.H268Y			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGACTTCATTCATGCTAATGT	0.358000													59	18					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678774	130678774	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:130678774C>T	ENST00000338616.3	+	1	825	c.727C>T	c.(727-729)Cac>Tac	p.H243Y		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATGTGGCTCTCACCTGACCGT	0.473000													13	107					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18005255	18005255	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:18005255G>A	ENST00000225729.3	+	9	888	c.750G>A	c.(748-750)caG>caA	p.Q250Q	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Silent_p.Q250Q	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	250					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					AAATCGACCAGATCTCCATGG	0.587000													3	18					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9761758	9761758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:9761758C>T	ENST00000318950.6	+	9	1322	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*	SWAP70_ENST00000447399.2_Nonsense_Mutation_p.Q349*	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	407						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACAGGTTGCTCAAAAGTCCTC	0.478000													7	60					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34218928	34218928	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:34218928C>G	ENST00000317619.3	-	13	1284	c.890G>C	c.(889-891)gGa>gCa	p.G297A	CPNE1_ENST00000317677.5_Missense_Mutation_p.G302A|CPNE1_ENST00000397445.1_Missense_Mutation_p.G297A|CPNE1_ENST00000397446.1_Missense_Mutation_p.G297A|CPNE1_ENST00000352393.4_Missense_Mutation_p.G297A|CPNE1_ENST00000397443.1_Missense_Mutation_p.G297A|CPNE1_ENST00000397442.1_Missense_Mutation_p.G297A			Q99829	CPNE1_HUMAN	copine I	297	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGAGGGGTCTCCATTGGAGCC	0.577000													20	136					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13160497	13160497	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:13160497G>A	ENST00000379350.1	+	5	606	c.477G>A	c.(475-477)ctG>ctA	p.L159L	PHACTR1_ENST00000457702.2_Silent_p.L14L|PHACTR1_ENST00000379345.2_Silent_p.L14L|PHACTR1_ENST00000332995.7_Silent_p.L159L|PHACTR1_ENST00000482982.1_3'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	159						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGAGTCCTGAAGGAAATCT	0.448000													10	209					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413797	89413797	+	RNA	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:89413797G>C	ENST00000532352.1	+	0	1282							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTGAGAGTTGATTGTACACC	0.299000													16	18					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158495692	158495692	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:158495692C>G	ENST00000355585.4	+	16	2289	c.2214C>G	c.(2212-2214)gtC>gtG	p.V738V	SYNJ2_ENST00000367121.3_Silent_p.V738V|SYNJ2_ENST00000367122.2_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	738							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGAAGAAGTCTTCTATTTTG	0.333000													36	7					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27590617	27590617	+	Missense_Mutation	SNP	T	T	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:27590617T>C	ENST00000493344.2	-	7	1153	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	EIF2B4_ENST00000451130.2_Missense_Mutation_p.M280V|EIF2B4_ENST00000445933.2_Missense_Mutation_p.M259V|EIF2B4_ENST00000347454.4_Missense_Mutation_p.M260V			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	260					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTACCTCATGTAGGGTTTT	0.413000													6	46					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32485206	32485206	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:32485206C>G	ENST00000379882.1	-	9	1469	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	DDX58_ENST00000379883.2_Missense_Mutation_p.E483Q|DDX58_ENST00000379868.1_Missense_Mutation_p.E280Q|DDX58_ENST00000545044.1_Missense_Mutation_p.E280Q|DDX58_ENST00000542096.1_Missense_Mutation_p.E412Q			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	483					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GCCAGACTCTCTGTGTCCCTC	0.383000													46	67					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32635034	32635034	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:32635034C>T	ENST00000266086.4	-	6	532	c.521G>A	c.(520-522)gGa>gAa	p.G174E	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	174					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						AAGGTCCAATCCCAAGGCCAG	0.448000													25	65					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2433862	2433862	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:2433862C>G	ENST00000325327.3	-	8	1506	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	LMNB2_ENST00000582871.1_Missense_Mutation_p.E462Q			Q03252	LMNB2_HUMAN	lamin B2	462	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTTGCCCTCCAGGTCGATC	0.662000													35	94					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	445109	445109	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:445109G>C	ENST00000280886.6	-	10	1287	c.1200C>G	c.(1198-1200)ttC>ttG	p.F400L	DIP2C_ENST00000381496.3_Missense_Mutation_p.F293L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	400						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGCAGCCGTAGAAAGCCGCCA	0.627000													19	118					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721302	66721302	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:66721302G>C	ENST00000360242.5	+	8	1587	c.1470G>C	c.(1468-1470)caG>caC	p.Q490H	CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q490H	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	490										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTAAGCTCCAGAGGTCTCTGG	0.373000													37	48					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170079164	170079164	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:170079164G>C	ENST00000458537.3	+	1	1754	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	SKIL_ENST00000426052.2_Missense_Mutation_p.E329Q|SKIL_ENST00000413427.2_Missense_Mutation_p.E349Q|SKIL_ENST00000259119.4_Missense_Mutation_p.E349Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	349					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GATAATTTTAGAAGAAATGAA	0.328000													7	99					0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508182	140508182	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:140508182C>G	ENST00000371421.4	+	4	460	c.396C>G	c.(394-396)atC>atG	p.I132M	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	132										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		TGTTCTATATCTTGAGCCCCT	0.577000													57	85					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117423070	117423070	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:117423070G>A	ENST00000455858.2	+	6	770	c.697G>A	c.(697-699)Gat>Aat	p.D233N	FBXW8_ENST00000309909.5_Missense_Mutation_p.D299N|RP11-231I16.1_ENST00000548738.1_RNA|FBXW8_ENST00000551773.1_3'UTR	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	299							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TTTTGAGCACGATGCAAGAAT	0.448000													13	33					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682066	100682066	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:100682066C>G	ENST00000306151.4	+	3	7433	c.7369C>G	c.(7369-7371)Ccg>Gcg	p.P2457A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2457	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2457T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAACCACTCCGTTAGCAAG	0.537000													52	459					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2421865	2421865	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:2421865G>T	ENST00000332578.3	+	13	2066	c.2066G>T	c.(2065-2067)gGc>gTc	p.G689V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	689	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCTGGGGGCCCCCTGGCC	0.617000													5	102					1.23904e-05	1.30389e-05	1	1	0
DICER1	23405	broad.mit.edu	37	14	95562508	95562508	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:95562508G>A	ENST00000526495.1	-	25	5040	c.4749C>T	c.(4747-4749)ctC>ctT	p.L1583L	DICER1_ENST00000541352.1_Silent_p.L1583L|DICER1_ENST00000527414.1_Silent_p.L1583L|DICER1_ENST00000393063.1_Silent_p.L1583L|DICER1_ENST00000343455.3_Silent_p.L1583L|DICER1_ENST00000556045.1_Silent_p.L481L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1583			L -> R (in PPB).		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)		CCAGTGAACAGAGGAAAAGCT	0.527000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				31	212					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271397	109271397	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:109271397G>C	ENST00000370017.3	+	8	1790	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	FNDC7_ENST00000271311.2_Missense_Mutation_p.E506Q	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	506	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAGCACAGGAGAGTCCTGCAC	0.567000													6	55					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48665939	48665939	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:48665939C>T	ENST00000358747.6	-	15	1915	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	SLC26A6_ENST00000455886.2_Silent_p.K540K|SLC26A6_ENST00000337000.8_Silent_p.K469K|SLC26A6_ENST00000383733.3_Silent_p.K576K|SLC26A6_ENST00000420764.2_Silent_p.K576K|SLC26A6_ENST00000395550.2_Silent_p.K576K	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAGTTTCTTCTTCTGGGAGA	0.557000													68	77					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61666124	61666124	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:61666124G>A	ENST00000263102.6	-	1	290	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	20	Poly-Ser.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CATGGCGGCCGAGCTGCTGCT	0.756000			T	RET	NSCLC								4	26					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32289627	32289627	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:32289627G>C	ENST00000400246.1	+	39	4235	c.4093G>C	c.(4093-4095)Gac>Cac	p.D1365H	DEPDC5_ENST00000400248.2_Missense_Mutation_p.D1334H|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D1356H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D1334H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D1265H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D1365H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D1343H|DEPDC5_ENST00000539165.1_Missense_Mutation_p.D182H			O75140	DEPD5_HUMAN	DEP domain containing 5	1334					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAACCGCACAGACCGGCTGGA	0.547000													5	115					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96971044	96971044	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:96971044G>C	ENST00000369278.4	+	2	166	c.100G>C	c.(100-102)Gag>Cag	p.E34Q		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	34	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										GAACTGCATTGAGATTGTTAA	0.353000													11	47					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74418498	74418498	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:74418498C>T	ENST00000263665.6	-	7	815	c.788G>A	c.(787-789)aGa>aAa	p.R263K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	263	Ig-like C2-type 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)		CCCATCACTTCTTCTCCAATT	0.388000													9	71					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30618794	30618794	+	Silent	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:30618794C>A	ENST00000293604.6	+	3	1234	c.1041C>A	c.(1039-1041)tcC>tcA	p.S347S	C6orf136_ENST00000376473.5_Silent_p.S166S|C6orf136_ENST00000376471.4_Silent_p.S32S|C6orf136_ENST00000528347.2_Silent_p.S23S	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	166										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCTTCAGTCCCACGACTACA	0.433000													9	138					4.3838e-07	4.73723e-07	1	1	0
SMAD6	4091	broad.mit.edu	37	15	67073392	67073392	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:67073392G>T	ENST00000288840.5	+	4	2041	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	SMAD6_ENST00000338426.4_Missense_Mutation_p.W76L	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	337	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GTGGCGTACTGGGAGCACCGG	0.677000													8	7					0.0477658	0.0479541	1	1	0
PTPN5	84867	broad.mit.edu	37	11	18765660	18765660	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:18765660G>A	ENST00000396170.1	-	4	1448	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	PTPN5_ENST00000396171.4_Missense_Mutation_p.P62S|PTPN5_ENST00000358540.2_Missense_Mutation_p.P62S|PTPN5_ENST00000396168.1_Missense_Mutation_p.P38S|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.P62S	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	62						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGCGGCGAGGGAGGAGGGGGT	0.647000													26	237					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022866	131022866	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:131022866C>T	ENST00000421699.2	-	17	1567	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E507K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	519						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTGCGCGCCTCCGCCTGCTCC	0.662000													15	244					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849963	73849963	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:73849963G>C	ENST00000523207.1	+	3	2961	c.2373G>C	c.(2371-2373)caG>caC	p.Q791H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	791					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTCCCAAGCAGAAACTGTTCC	0.547000													34	56					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846797	140846797	+	Translation_Start_Site	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:140846797C>A	ENST00000277549.5	+	0	1183				CACNA1B_ENST00000371357.1_Missense_Mutation_p.F346L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F346L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F346L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F346L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.F346L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCTCCTTCTTCATGCTCAACC	0.587000													8	84					7.48243e-07	8.04019e-07	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24411078	24411078	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:24411078G>A	ENST00000330966.7	-	16	2015	c.1853C>T	c.(1852-1854)tCt>tTt	p.S618F	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.S617F|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.S617F			Q5VTT5	MYOM3_HUMAN	myomesin 3	617	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAGGGAGACAGAGGTCTGTGT	0.493000													44	239					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237181	100237181	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:100237181G>A	ENST00000305046.8	-	5	508	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ADH1B_ENST00000394887.3_Silent_p.F107F			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	147					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGTACTGGGAGAAGGTGCTGG	0.582000													7	66					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	34					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37696979	37696979	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:37696979G>A	ENST00000248901.6	+	7	653	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	156	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCTGCCGGGCGAGGCCCAGAA	0.672000													13	47					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201768387	201768387	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:201768387C>G	ENST00000409020.1	+	7	1414	c.1120C>G	c.(1120-1122)Ctt>Gtt	p.L374V	NIF3L1_ENST00000359683.4_Missense_Mutation_p.L347V|NIF3L1_ENST00000409357.1_Missense_Mutation_p.L374V|NIF3L1_ENST00000409588.1_3'UTR|NIF3L1_ENST00000416651.1_Missense_Mutation_p.L374V			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	374					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CAGGGACCCTCTTCAGGTGGT	0.413000													5	27					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73453936	73453936	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:73453936G>A	ENST00000224721.6	+	20	2229	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	CDH23_ENST00000299366.7_Missense_Mutation_p.E782K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	737	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCTTGACCGAGAGACCAAGTC	0.607000													9	15					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53619593	53619593	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:53619593C>T	ENST00000455735.2	-	4	367	c.47G>A	c.(46-48)gGa>gAa	p.G16E	ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000597748.1_Missense_Mutation_p.E37K|ZNF415_ENST00000600574.1_Missense_Mutation_p.E37K|ZNF415_ENST00000595813.1_Missense_Mutation_p.E37K|ZNF415_ENST00000243643.4_Missense_Mutation_p.E37K|ZNF415_ENST00000599261.1_Missense_Mutation_p.E37K|ZNF415_ENST00000595193.1_Missense_Mutation_p.E37K|ZNF415_ENST00000448501.1_Missense_Mutation_p.G16E|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.G16E|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000597503.1_Missense_Mutation_p.E37K|ZNF415_ENST00000500065.4_Missense_Mutation_p.E37K|ZNF415_ENST00000594011.1_Missense_Mutation_p.E37K|ZNF415_ENST00000601493.1_Intron			Q09FC8	ZN415_HUMAN	zinc finger protein 415	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTGTAGTTCTCCAACATCACA	0.468000													14	118					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33057736	33057736	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:33057736G>C	ENST00000286835.7	-	18	2653	c.2271C>G	c.(2269-2271)caC>caG	p.H757Q	SCAF4_ENST00000399804.1_Missense_Mutation_p.H757Q|SCAF4_ENST00000434667.3_Missense_Mutation_p.H742Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	757						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTGGTGGAGTGTGAGGAGGAG	0.443000													11	58					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114842384	114842384	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:114842384G>C	ENST00000374270.3	-	11	1708	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	SUSD1_ENST00000374263.3_Missense_Mutation_p.I512M|SUSD1_ENST00000374264.2_Missense_Mutation_p.I512M	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	512						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CAGCTGTCTTGATGCTTCTCC	0.353000													32	47					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48169815	48169815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:48169815C>T	ENST00000381501.3	-	7	808	c.651G>A	c.(649-651)tgG>tgA	p.W217*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	217	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCTTGCTCTCCACCAATGAA	0.408000													42	55					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40697309	40697309	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:40697309C>T	ENST00000372771.4	+	7	1095	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	356					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TATTTTGCCTCATTAGAGTTA	0.398000													7	43					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117066	58117066	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:58117066G>C	ENST00000332854.6	+	3	393	c.173G>C	c.(172-174)gGa>gCa	p.G58A	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	58	KRAB.				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)		TGCTGGTGTGGAGCAGTAGAT	0.448000													5	50					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144835911	144835911	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:144835911G>A	ENST00000367545.3	+	36	5199	c.5199G>A	c.(5197-5199)ctG>ctA	p.L1733L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1733	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAGCTGAGCTGAATAGGAACT	0.403000													12	48					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446572	10446572	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr4:10446572C>T	ENST00000326756.3	-	3	1819	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAAAATCCTCAATTGTTTCC	0.318000													5	50					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57758671	57758671	+	Silent	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:57758671C>A	ENST00000269122.3	+	20	3355	c.3081C>A	c.(3079-3081)ctC>ctA	p.L1027L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.L1027L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1027	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGCAAAACCTCCTTATCCTCA	0.358000			T	"""ALK, TFE3"""	"""ALCL, renal """								5	84					0.00116845	0.00120471	1	1	0
ASIP	434	broad.mit.edu	37	20	32848184	32848184	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:32848184G>C	ENST00000568305.1	+	2	206	c.4G>C	c.(4-6)Gat>Cat	p.D2H	ASIP_ENST00000374954.3_Missense_Mutation_p.D2H|RP4-785G19.5_ENST00000512005.1_RNA			P42127	ASIP_HUMAN	agouti signaling protein	2					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						TCCTGGGATGGATGTCACCCG	0.582000													85	148					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177643	89177643	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:89177643G>A	ENST00000561129.2	+	1	689	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A187T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CACCGGAATAGCCCAGCCGAA	0.567000													6	29					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:48699002C>T	ENST00000544264.1	-	1	1346	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E356K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672000													10	111					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35803215	35803215	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:35803215G>C	ENST00000373825.2	-	16	2119	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	SRPK1_ENST00000423325.2_Missense_Mutation_p.L596V|SRPK1_ENST00000373822.1_Missense_Mutation_p.L504V			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	612	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTCCACTAGAACCTCAAAA	0.493000													8	24					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881253	26881253	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:26881253G>C	ENST00000231021.4	-	12	2534	c.2362C>G	c.(2362-2364)Cga>Gga	p.R788G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	788					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R788R(1)		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						TCTTAGTCTCGGTCACTATCA	0.413000													67	98					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940560	113940560	+	Missense_Mutation	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:113940560A>G	ENST00000441564.3	+	2	696	c.527A>G	c.(526-528)aAg>aGg	p.K176R	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Missense_Mutation_p.K176R			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCTGGAGAAGACGGAAGGG	0.627000													12	46					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175782582	175782582	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:175782582G>A	ENST00000298569.4	-	4	732	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000393725.2_Missense_Mutation_p.L48F|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000510164.1_Missense_Mutation_p.L67F|KIAA1191_ENST00000393728.2_Intron	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	67							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ACCTTGGCGAGGTGCTGATAC	0.587000													27	174					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76225158	76225158	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:76225158C>T	ENST00000308275.3	+	7	1032	c.927C>T	c.(925-927)ctC>ctT	p.L309L	FBXO22_ENST00000540507.1_Silent_p.L205L	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	309					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGCAGCGCCTCAAAGCGGCCA	0.527000													8	51					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132957112	132957112	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:132957112C>T	ENST00000254624.5	+	3	433	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	EFR3A_ENST00000519656.1_Missense_Mutation_p.R34C|EFR3A_ENST00000334503.4_Missense_Mutation_p.R70C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	70						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTCAGACATCGTTCTGGGTA	0.363000													18	7					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703684	48703684	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:48703684G>A	ENST00000352832.5	+	34	6697	c.6325G>A	c.(6325-6327)Gag>Aag	p.E2109K	CACNA1G_ENST00000359106.5_Missense_Mutation_p.E2236K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E2030K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E2180K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E2225K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E2150K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E2102K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E2136K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E2091K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E2064K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E2146K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E2118K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E2173K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E2191K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E2143K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E2165K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E2053K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E2098K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E2086K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E2109K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E2125K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E2202K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E2132K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E2157K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E2120K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2236					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCCAGGAGGAGCCCCCATC	0.647000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337948	102337948	+	Missense_Mutation	SNP	T	T	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chrX:102337948T>A	ENST00000395065.3	-	7	776	c.675A>T	c.(673-675)agA>agT	p.R225S	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.R136S	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	225						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAAATGGGAGTCTCTGGATAT	0.498000													45	176					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813082	24813082	+	RNA	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:24813082G>A	ENST00000221169.5	-	0	1542							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGATTTCCAGGGTCTTGGCCT	0.637000													8	57					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72678741	72678741	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:72678741G>A	ENST00000264839.7	+	2	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RIMS1_ENST00000522291.1_Missense_Mutation_p.E74K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E74K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E74K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E74K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E74K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E74K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E74K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	74	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAAATGCTGAAAACCAGCC	0.438000													8	62					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173881113	173881113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:173881113G>A	ENST00000367698.3	-	3	566	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	150			Q -> P (in AT3D; type-II; Vienna).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	AAGTGGATCTGATCAGATGTT	0.413000													54	91					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41100003	41100003	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:41100003G>A	ENST00000355341.4	+	1	717	c.216G>A	c.(214-216)ctG>ctA	p.L72L	ZFYVE19_ENST00000299173.10_Silent_p.L72L|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000570108.1_Silent_p.L49L|ZFYVE19_ENST00000336455.5_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	72							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGCGGTGCTGGGAGCCACCA	0.672000													22	7					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465082	10465082	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:10465082C>T	ENST00000382483.3	-	4	6749	c.6526G>A	c.(6526-6528)Gag>Aag	p.E2176K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2176					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTCTAACTCTGGTTGGGCC	0.607000													179	262					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343077	130343077	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr11:130343077C>T	ENST00000299164.2	+	8	2214	c.2214C>T	c.(2212-2214)aaC>aaT	p.N738N		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	738	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACCTGCTCAACGGGCATTTCG	0.627000													22	96					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25833244	25833244	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:25833244C>G	ENST00000280701.3	+	2	832	c.733C>G	c.(733-735)Ctt>Gtt	p.L245V	OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	245					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCTTTATCTCTTGCTGGGTT	0.473000													54	87					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11687276	11687276	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:11687276C>G	ENST00000592828.1	-	6	919	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.E173Q|ACP5_ENST00000218758.5_Missense_Mutation_p.E173Q|ACP5_ENST00000412435.2_Missense_Mutation_p.E173Q	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	173					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CGGGGCCTCTCAGGCTGCTGG	0.582000													33	40					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63994160	63994160	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:63994160G>C	ENST00000324472.4	-	13	1468	c.1285C>G	c.(1285-1287)Caa>Gaa	p.Q429E		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	429					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCACTACCTTGAATTAGCTAG	0.303000													26	47					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457117	25457117	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:25457117C>A	ENST00000278886.6	-	17	2883	c.2810G>T	c.(2809-2811)gGa>gTa	p.G937V	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	937					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCCCGGGCTCCAGGCTGCTC	0.672000													7	34					1.12685e-05	1.19075e-05	1	1	0
CLK4	57396	broad.mit.edu	37	5	178040800	178040800	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:178040800C>T	ENST00000316308.4	-	6	755	c.587G>A	c.(586-588)cGt>cAt	p.R196H		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	196	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		TTCACGGTAACGGCCTACATT	0.363000													27	50					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504154	39504154	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:39504154G>A	ENST00000518318.2	+	10	1879	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	POU6F2_ENST00000403058.1_Missense_Mutation_p.E649K|POU6F2_ENST00000559001.1_Missense_Mutation_p.E594K			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	649					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTATGACCGAGAAGTAGTTAG	0.502000													10	17					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976844	2976844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:2976844G>A	ENST00000396946.4	-	9	1571	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	390					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TACTGTGTCTGAGCTTCATCT	0.587000			Mis		DLBCL								35	43					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422042	81422042	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:81422042G>C	ENST00000541158.2	+	2	340	c.18G>C	c.(16-18)ttG>ttC	p.L6F	TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.L6F|TSHR_ENST00000554263.1_Missense_Mutation_p.L6F|TSHR_ENST00000554435.1_Missense_Mutation_p.L6F|TSHR_ENST00000342443.6_Missense_Mutation_p.L6F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	6					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L6F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGGCGGACTTGCTGCAGCTGG	0.612000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						25	178					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086274	9086274	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:9086274G>A	ENST00000397910.4	-	1	5744	c.5541C>T	c.(5539-5541)ctC>ctT	p.L1847L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1847	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L1847L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATGGCTGAGGTCAAGTG	0.502000													22	33					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648384	130648384	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:130648384C>T	ENST00000539839.1	+	1	1381	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	FZD10_ENST00000229030.4_Silent_p.V299V	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AGCTCTATGTCATCCAGGAGG	0.642000													65	56					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226030077	226030077	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:226030077G>A	ENST00000366837.4	+	7	1138	c.942G>A	c.(940-942)ctG>ctA	p.L314L	EPHX1_ENST00000272167.5_Silent_p.L314L|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	314					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTCTGCTCTGAATGACTCTC	0.582000													18	100					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196608	74196608	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:74196608G>A	ENST00000286523.5	-	4	2612	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	ELMSAN1_ENST00000394071.2_Silent_p.I610I	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		TGGTGGGGATGATGAGGGGCT	0.612000													42	44					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7849099	7849099	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:7849099G>C	ENST00000380262.3	+	13	2713	c.1788G>C	c.(1786-1788)gaG>gaC	p.E596D	CNTROB_ENST00000565740.1_Missense_Mutation_p.E596D|CNTROB_ENST00000563694.1_Missense_Mutation_p.E596D|CNTROB_ENST00000380255.3_Missense_Mutation_p.R542T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	596	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGAAGGAGGAGAGGAGGGTCT	0.622000													15	125					0	0	1	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195098	1195098	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:1195098C>T	ENST00000401903.1	-	4	532	c.273G>A	c.(271-273)aaG>aaA	p.K91K	ZFAND2A_ENST00000316495.3_Silent_p.K91K			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	91						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCTTCTCTTTCTTCTTCCCAG	0.488000													21	69					0	0	1	0	0
MIR543	100126335	broad.mit.edu	37	14	101498332	101498332	+	RNA	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:101498332G>A	ENST00000390751.1	+	0	9					NR_030619.1																						GGTACTTAATGAGAAGTTGCC	0.512000													5	27					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147805	43147805	+	RNA	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:43147805C>T	ENST00000522175.2	+	0	180							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAAGGTATCACGTCCGTCG	0.607000													5	103					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109820412	109820412	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:109820412G>C	ENST00000424296.2	-	36	4957	c.4881C>G	c.(4879-4881)atC>atG	p.I1627M	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CTTGAGGTGTGATACATAACT	0.373000													14	19					0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35396441	35396441	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:35396441G>C	ENST00000426836.1	-	4	732	c.360C>G	c.(358-360)ctC>ctG	p.L120L	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373734.4_Silent_p.L13L|DSN1_ENST00000448110.2_Silent_p.L104L|DSN1_ENST00000373745.3_Silent_p.L120L|DSN1_ENST00000373740.3_Silent_p.L48L|DSN1_ENST00000373750.4_Silent_p.L120L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	120					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TAGACCGGCTGAGCTCTAACA	0.398000													8	85					0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167104	130167104	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr9:130167104C>T	ENST00000373371.3	+	8	1073	c.984C>T	c.(982-984)gtC>gtT	p.V328V	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Silent_p.V328V|SLC2A8_ENST00000373352.1_Silent_p.V65V	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	328						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CAGGTGTGGTCATGGTGTTCA	0.701000													22	52					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631681	101631681	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr5:101631681G>C	ENST00000310954.6	-	1	572	c.286C>G	c.(286-288)Caa>Gaa	p.Q96E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	96					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.Q96*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGAGACATTGAGGATGGAAG	0.592000													5	57					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63922755	63922755	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:63922755G>A	ENST00000443617.2	-	69	12963	c.12876C>T	c.(12874-12876)atC>atT	p.I4292I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4292					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATCTTCTATGATTACTCCAG	0.468000													46	136					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020573	151020573	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:151020573G>A	ENST00000368926.5	+	1	358	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	84						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCGGCTGCCGAGCTCTTGGC	0.617000													11	94					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139235838	139235838	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:139235838G>A	ENST00000450536.2	-	15	2355	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	REPS1_ENST00000367663.4_Missense_Mutation_p.S567L|REPS1_ENST00000409812.2_Missense_Mutation_p.S503L|REPS1_ENST00000258062.5_Missense_Mutation_p.S593L|REPS1_ENST00000415951.2_Missense_Mutation_p.S567L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	594	Pro-rich.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATTACCTGTGAGGGCTGTGG	0.403000													25	10					0	0	1	0	0
ATP5O	539	broad.mit.edu	37	21	35286800	35286800	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:35286800C>T	ENST00000290299.2	-	2	257	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	ATP5O_ENST00000496044.1_5'UTR	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						ACTGAAGCATCGCACCTTCAA	0.323000													8	50					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405290	28405290	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:28405290C>G	ENST00000394835.3	+	15	2987	c.2795C>G	c.(2794-2796)tCa>tGa	p.S932*	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.S808*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	932							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGATTGTCTTCAAAACAATTT	0.383000													6	94					0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41300992	41300992	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr21:41300992C>G	ENST00000328619.5	+	3	330	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	49	IQ.				central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CATTCAGTCTCAGTTCAGAAA	0.463000													11	34					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559342	7559342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:7559342C>T	ENST00000313599.3	-	5	930	c.873G>A	c.(871-873)tgG>tgA	p.W291*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W291*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W301*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	291	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCATTGTTCCACTTATGGT	0.502000													11	111					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129041	40129041	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:40129041G>C	ENST00000235628.1	-	4	498	c.499C>G	c.(499-501)Cac>Gac	p.H167D		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	167					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGTTGGTGTGATAGGCCTTG	0.527000													7	59					0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30494894	30494894	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:30494894G>A	ENST00000336726.6	+	3	460	c.105G>A	c.(103-105)gtG>gtA	p.V35V	HORMAD2_ENST00000403975.1_Silent_p.V35V	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	35	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TGAAAATGGTGAAGAAACTTT	0.363000													30	93					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32000113	32000113	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:32000113G>C	ENST00000217381.2	-	5	1300	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	343	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGGTGGCGATGAGTGGGGCAG	0.647000													5	23					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653401	1653401	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr2:1653401G>C	ENST00000252804.4	-	17	2201	c.2151C>G	c.(2149-2151)atC>atG	p.I717M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	717					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACAGGTTTGCGATGAGGTTCA	0.577000													35	58					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005348	50005348	+	Missense_Mutation	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:50005348G>A	ENST00000443081.1	+	3	1013	c.94G>A	c.(94-96)Gac>Aac	p.D32N	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D164N|RBM6_ENST00000442092.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	164					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCACGCTGTTGACTTCAGAGG	0.502000													33	69					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44184445	44184445	+	Missense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:44184445C>G	ENST00000357199.4	-	4	418	c.340G>C	c.(340-342)Gac>Cac	p.D114H	WFDC8_ENST00000289953.2_Missense_Mutation_p.D114H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	114	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTTTTAAAGTCAAAATGCCAG	0.478000													33	87					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890488	6890488	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:6890488G>A	ENST00000419673.2	+	13	1534	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	ARHGAP28_ENST00000383472.4_Silent_p.K598K|ARHGAP28_ENST00000400091.2_Silent_p.K598K|ARHGAP28_ENST00000314319.3_Silent_p.K439K|ARHGAP28_ENST00000262227.3_Silent_p.K546K|ARHGAP28_ENST00000532996.1_Silent_p.K421K|ARHGAP28_ENST00000418986.1_Silent_p.K439K|ARHGAP28_ENST00000531294.1_Silent_p.K434K	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	421					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGCTATTGAAGAAGCAGCTCC	0.468000													39	37					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156608	111156608	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr13:111156608G>C	ENST00000360467.5	+	45	4705	c.4399G>C	c.(4399-4401)Gaa>Caa	p.E1467Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1467	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATTGGCCAAGAAGGTGAGTG	0.602000													31	82					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106903237	106903237	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr12:106903237C>T	ENST00000228347.4	+	28	3534	c.3312C>T	c.(3310-3312)ctC>ctT	p.L1104L	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1046L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1104					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGTCTTCCCTCCGTATTCCGT	0.483000													10	141					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976113	7976113	+	Silent	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:7976113C>G	ENST00000319144.4	-	15	2342	c.2082G>C	c.(2080-2082)ctG>ctC	p.L694L		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	694	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGTTCTCAATCAGCACCGGGT	0.512000										Multiple Myeloma(8;0.094)			19	112					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103969316	103969316	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:103969316C>A	ENST00000429436.2	+	18	2524	c.2014C>A	c.(2014-2016)Ccc>Acc	p.P672T	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000216288.7_Missense_Mutation_p.P632T|MARK3_ENST00000303622.9_Missense_Mutation_p.P648T|MARK3_ENST00000440884.3_Missense_Mutation_p.P578T|MARK3_ENST00000553942.1_Missense_Mutation_p.P663T|MARK3_ENST00000416682.2_Missense_Mutation_p.P671T|MARK3_ENST00000335102.5_Missense_Mutation_p.P695T	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	672							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTCAATGGATCCCGGGGACAT	0.507000													6	44					0.00116845	0.00120471	1	1	0
MMP9	4318	broad.mit.edu	37	20	44640312	44640312	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:44640312C>T	ENST00000372330.3	+	6	942	c.923C>T	c.(922-924)tCc>tTc	p.S308F		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	308	Fibronectin type-II 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.S308Y(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GACGGTCGCTCCGACGGCTAC	0.622000											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	82					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7690904	7690904	+	Silent	SNP	G	G	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:7690904G>A	ENST00000358368.4	-	6	721	c.684C>T	c.(682-684)atC>atT	p.I228I	XAB2_ENST00000534844.1_Silent_p.I225I	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	228					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GATTCTGGGAGATGAGGTCGC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)					11	88					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945399	17945399	+	Silent	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:17945399G>C	ENST00000458235.1	-	17	2430	c.2331C>G	c.(2329-2331)ctC>ctG	p.L777L	JAK3_ENST00000534444.1_Silent_p.L777L|JAK3_ENST00000527670.1_Silent_p.L777L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	777	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGAGGCTATTGAGGTCACGAA	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								9	77					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:89720741C>T	ENST00000371953.3	+	8	2249	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	298	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			8	32					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105672922	105672922	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:105672922G>C	ENST00000542731.1	+	19	2545	c.2437G>C	c.(2437-2439)Gag>Cag	p.E813Q	CDHR3_ENST00000317716.9_Missense_Mutation_p.E813Q|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.E725Q			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	813					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AAAATGGAAAGAGTCCAGCCA	0.488000													3	37					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110249	98110249	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr3:98110249C>G	ENST00000383695.1	+	1	740	c.740C>G	c.(739-741)tCa>tGa	p.S247*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S247L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTCTCTGTGTCAATATTCTGT	0.353000													7	75					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774736	24774736	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:24774736C>T	ENST00000221166.5	+	3	2150	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	NEFM_ENST00000437366.2_Silent_p.I456I|NEFM_ENST00000433454.2_Silent_p.I80I|NEFM_ENST00000518131.1_Silent_p.I456I|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	456	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCGAGGAGATCATAGAGGAAA	0.458000													5	69					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957869	152957869	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr1:152957869G>C	ENST00000307122.2	+	2	227	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E55Q	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	55	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGTGCCTGAGCCCTGCCA	0.637000													15	409					0	0	1	0	0
NUTM2A	728118	broad.mit.edu	37	10	88988193	88988193	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:88988193C>A	ENST00000381689.4	+	2	887	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	NUTM2A_ENST00000381707.2_Missense_Mutation_p.L186M|NUTM2A-AS1_ENST00000451940.2_RNA					NUT family member 2A																		CAGCACACCTCTGGTGACAGA	0.682000													45	82					2.64894e-19	2.95013e-19	1	1	0
HIRA	7290	broad.mit.edu	37	22	19338903	19338903	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr22:19338903C>A	ENST00000263208.5	-	24	3171	c.2915G>T	c.(2914-2916)aGc>aTc	p.S972I	HIRA_ENST00000541063.1_Missense_Mutation_p.S928I|HIRA_ENST00000340170.4_Missense_Mutation_p.S765I|HIRA_ENST00000546308.1_3'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	972	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTCCCACTGGCTTCCAGTGGA	0.398000													7	119					0.0293803	0.029652	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6964675	6964675	+	Missense_Mutation	SNP	C	C	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr18:6964675C>A	ENST00000389658.3	-	51	7416	c.7323G>T	c.(7321-7323)agG>agT	p.R2441S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2441	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACTCTTGACCTTGGTAATC	0.448000													10	144					6.40141e-05	6.66305e-05	1	1	0
USP54	159195	broad.mit.edu	37	10	75290465	75290465	+	Missense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr10:75290465C>T	ENST00000339859.4	-	12	1544	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.E482K|USP54_ENST00000319786.7_Missense_Mutation_p.E482K|USP54_ENST00000428547.1_Missense_Mutation_p.E332K|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	482					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGCTTGCCTTCACTGTGGTAT	0.522000													15	30					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975223	42975223	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:42975223C>T	ENST00000485511.1	+	6	884	c.705C>T	c.(703-705)atC>atT	p.I235I	PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000394110.3_Silent_p.I203I|PPP2R5D_ENST00000472118.1_Silent_p.I227I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	235					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.I235I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGTACATCGACCAGAAGT	0.512000													38	72					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039177	5039177	+	Silent	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr17:5039177C>T	ENST00000574788.1	+	17	2848	c.618C>T	c.(616-618)ttC>ttT	p.F206F	USP6_ENST00000332776.4_Silent_p.F206F|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.F206F			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	206	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGACGCATTCTGGGCACTGG	0.622000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								10	118					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015371	53015371	+	Missense_Mutation	SNP	G	G	C			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:53015371G>C	ENST00000421239.2	+	6	1981	c.1737G>C	c.(1735-1737)ttG>ttC	p.L579F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAATCACTTGATTGATTCAT	0.393000													4	31					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743668	81743668	+	Missense_Mutation	SNP	G	G	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr14:81743668G>T	ENST00000555447.1	-	6	2399	c.1987C>A	c.(1987-1989)Ctg>Atg	p.L663M	STON2_ENST00000267540.2_Missense_Mutation_p.L663M	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	663	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGGTTGAACAGAATGACCCGT	0.522000													10	79					7.48243e-07	8.04019e-07	1	1	0
ZNF324B	388569	broad.mit.edu	37	19	58966705	58966705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:58966705C>T	ENST00000391696.1	+	3	1296	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	ZNF324B_ENST00000545523.1_Nonsense_Mutation_p.Q132*|ZNF324B_ENST00000336614.4_Nonsense_Mutation_p.Q132*			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCCCATCTCAGGAGAGAAA	0.617000													13	110					0	0	1	0	0
PSMB9	5698	broad.mit.edu	37	6	32826143	32826143	+	Silent	SNP	A	A	G			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr6:32826143A>G	ENST00000395330.1	+	5	472	c.324A>G	c.(322-324)gtA>gtG	p.V108V	PSMB9_ENST00000374859.2_Silent_p.V131V|PSMB9_ENST00000453265.2_Silent_p.V87V			P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			large_intestine(4)|lung(4)|skin(1)	9						TTTCCCAGGTATATGGAACCC	0.502000													63	54					0	0	1	0	0
COPG2	26958	broad.mit.edu	37	7	130347867	130347867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr7:130347867delA	ENST00000445977.2	-	4	272	c.183delT	c.(181-183)tttfs	p.F61fs				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	61					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					CCGTTGTTCCAAAGTGTTCAC	0.289													2	4	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18430136	18430137	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:18430136_18430137insA	ENST00000440756.2	-	14	2793_2794	c.2691_2692insT	c.(2689-2694)gtggcafs	p.A898fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.A362fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.A225fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.A896fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.A831fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	897	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATACAGCTGCCACACAATTGA	0.441													68	92	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													3	4	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													5	8	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													2	4	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56078582	56078584	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:56078582_56078584delTTC	ENST00000608263.1	-	9	2409_2411	c.1748_1750delGAA	c.(1747-1752)agaaca>aca	p.R583del	CTCFL_ENST00000609232.1_In_Frame_Del_p.R583del|CTCFL_ENST00000608440.1_In_Frame_Del_p.R583del|CTCFL_ENST00000502686.2_In_Frame_Del_p.R321del|CTCFL_ENST00000371196.2_In_Frame_Del_p.R583del|CTCFL_ENST00000429804.3_In_Frame_Del_p.R533del|CTCFL_ENST00000243914.3_In_Frame_Del_p.R583del|CTCFL_ENST00000423479.3_In_Frame_Del_p.R583del|CTCFL_ENST00000433949.3_In_Frame_Del_p.R378del	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCTTTCTTGTTCTTCTTCCCTT	0.507													8	125	---	---	---	---					
COL9A3	1299	broad.mit.edu	37	20	61461711	61461711	+	Splice_Site	DEL	G	G	-			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:61461711delG	ENST00000343916.3	+	23	1164		c.e23-1			NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TTGTCTTCCAGGGGGCCCTCG	0.692													2	4	---	---	---	---					
KCNQ2	3785	broad.mit.edu	37	20	62103605	62103605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LT-A5Z6-01A-11D-A289-08	TCGA-LT-A5Z6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ee6b7a-afe0-4c3d-9685-2657c0bbaa88	6e66caf2-6274-4b6e-9e3c-1a125ed7befe	g.chr20:62103605delT	ENST00000354587.3	-	1	388	c.212delA	c.(211-213)aacfs	p.N71fs	KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.N71fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.N71fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.N71fs|KCNQ2_ENST00000344462.4_Frame_Shift_Del_p.N71fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.N71fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.N71fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.N71fs			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	71					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTAGAAGGCGTTGCGCTTGGG	0.711													2	4	---	---	---	---