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
KRTAP26-1	388818	broad.mit.edu	37	21	31691743	31691743	+	Missense_Mutation	SNP	C	C	T	rs146155445		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr21:31691743C>T	ENST00000360542.3	-	1	864	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	204						intermediate filament		p.R204H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GCAAGATGGACGACACGTGCT	0.488000													9	109					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96652046	96652046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:96652046G>A	ENST00000302103.5	+	3	1341	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	339					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTGGCTTGCGATCATGTGAA	0.323000													7	71					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187518160	187518160	+	Silent	SNP	C	C	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:187518160C>G	ENST00000441802.2	-	25	12743	c.12534G>C	c.(12532-12534)ggG>ggC	p.G4178G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4178					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCGCCAACCCAATGTTCC	0.522000										HNSCC(5;0.00058)			13	93					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136669047	136669047	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:136669047T>C	ENST00000264161.4	-	14	1462	c.1247A>G	c.(1246-1248)tAc>tGc	p.Y416C	DARS_ENST00000537273.1_Missense_Mutation_p.Y316C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	416					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GAACATATCGTAAGAGTTGGA	0.373000													11	101					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													5	99					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457657	41457657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr21:41457657C>T	ENST00000400454.1	-	23	4481	c.4004G>A	c.(4003-4005)cGg>cAg	p.R1335Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATGCTCCTCCGCCCATCAAT	0.458000													8	63					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168189662	168189662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:168189662C>T	ENST00000519560.1	-	15	1911	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E498K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E498K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	498	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGAAGCACTCGCTGCTGAAC	0.632000													25	144					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739005	138739005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:138739005G>A	ENST00000329447.5	-	1	763	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGTCCATCCGGAGCTCCGGG	0.647000													5	44					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31202080	31202080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:31202080A>G	ENST00000254108.7	+	13	1415	c.1310A>G	c.(1309-1311)aAc>aGc	p.N437S	FUS_ENST00000380244.3_Missense_Mutation_p.N436S|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.N438S	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	437	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GAGAATATGAACTTCTCTTGG	0.498000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								7	48					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131923334	131923334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:131923334G>T	ENST00000378823.3	+	6	1238	c.420G>T	c.(418-420)aaG>aaT	p.K140N	RAD50_ENST00000265335.6_Missense_Mutation_p.K279N|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	279					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAGCCGAAAGAAGCAAATGG	0.299000								Homologous recombination					11	64					0.010729	0.0111625	1	1	0
ACAP2	23527	broad.mit.edu	37	3	195015477	195015477	+	Missense_Mutation	SNP	G	G	A	rs139056381	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:195015477G>A	ENST00000326793.6	-	18	1966	c.1736C>T	c.(1735-1737)aCg>aTg	p.T579M		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	579					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						GGCTGACACCGTGGAGGGTAA	0.363000													23	76					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77705020	77705020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:77705020G>A	ENST00000328313.5	+	1	340	c.119G>A	c.(118-120)gGc>gAc	p.G40D		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	40					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTTCGACGGCTTCCGCTGG	0.652000													4	24					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78919085	78919085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:78919085G>A	ENST00000453514.1	+	4	931	c.238G>A	c.(238-240)Gat>Aat	p.D80N	PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D80N|PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	80					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.D80N(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGATTAAGCGATGAAAAAAA	0.343000													7	88					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34081902	34081902	+	Silent	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:34081902A>G	ENST00000257209.4	+	4	467	c.345A>G	c.(343-345)ctA>ctG	p.L115L	FHOD3_ENST00000445677.1_Silent_p.L115L|FHOD3_ENST00000590592.1_Silent_p.L115L|FHOD3_ENST00000359247.4_Silent_p.L115L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	115	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGAAAAACTATACAACTCCA	0.323000													3	39					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126191	140126191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:140126191C>T	ENST00000538474.1	+	2	261	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.P13S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	13					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTCCCCCACCCCACTCTGGA	0.647000													8	93					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23928041	23928041	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:23928041C>A	ENST00000402377.3	-	4	452	c.311G>T	c.(310-312)gGa>gTa	p.G104V	ZNF681_ENST00000395385.3_Missense_Mutation_p.G35V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCACATTTTCCATATCTTCT	0.338000													6	36					2.0095e-06	2.2019e-06	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230705568	230705568	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:230705568T>C	ENST00000283943.5	-	4	1155	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q368R|TRIP12_ENST00000409677.1_Missense_Mutation_p.Q368R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	326					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGTGGTCTTTTGGCGTGTGCT	0.403000													6	39					0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291181	126291181	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:126291181A>T	ENST00000383572.2	-	3	684	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L69Q	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	69										endometrium(1)|large_intestine(2)|skin(2)	5						ggAGATCTTCAGTAGTCTCTT	0.547000													5	82					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86146538	86146538	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:86146538C>A	ENST00000431532.2	-	7	1100	c.952G>T	c.(952-954)Gct>Tct	p.A318S	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	357					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATGTACTCAGCTTGACTTTGA	0.323000													3	32					0.004672	0.00491037	1	1	0
MTMR4	9110	broad.mit.edu	37	17	56581672	56581672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:56581672C>T	ENST00000323456.5	-	13	1601	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	MTMR4_ENST00000579925.1_Missense_Mutation_p.A493T	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	493	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAGGAATGCTTCATTAAAT	0.507000													17	109					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957502	35957502	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:35957502G>C	ENST00000274278.3	-	5	1220	c.863C>G	c.(862-864)gCc>gGc	p.A288G	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A254G|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A288G	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	288						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCAAAGTTGGCAATGAAGTT	0.468000													4	33					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118371736	118371736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:118371736C>T	ENST00000534358.1	+	25	6216	c.6193C>T	c.(6193-6195)Cgc>Tgc	p.R2065C	KMT2A_ENST00000389506.5_Missense_Mutation_p.R2062C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CACAGATGCTCGCAAGCGCTG	0.458000													12	70					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663588	10663588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:10663588C>T	ENST00000309469.4	+	10	1443	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	ATG4D_ENST00000540862.1_Missense_Mutation_p.R91W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	424					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCACAGAGCGGTACCCCAT	0.622000													10	58					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193838	139193838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:139193838C>T	ENST00000274710.3	+	4	1110	c.905C>T	c.(904-906)cCt>cTt	p.P302L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	302	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCAGACCCTCTGGCCAAC	0.642000													17	86					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714705	13714705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:13714705C>G	ENST00000265104.4	-	75	13038	c.12934G>C	c.(12934-12936)Gag>Cag	p.E4312Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4312					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAAACACCTCAGGGCTGTCA	0.512000									Kartagener syndrome				8	50					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304560	114304560	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:114304560G>A	ENST00000309235.5	+	6	1503	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	449					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						AAAAGCCTTTGGCTATAGCGC	0.388000													8	65					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124001517	124001517	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:124001517G>A	ENST00000369005.1	+	19	8732		c.e19+1		TACC2_ENST00000369000.1_Splice_Site|TACC2_ENST00000515273.1_Splice_Site|TACC2_ENST00000513429.1_Splice_Site|TACC2_ENST00000368999.1_Splice_Site|TACC2_ENST00000334433.3_Splice_Site|TACC2_ENST00000369004.3_Splice_Site|TACC2_ENST00000260733.3_Splice_Site|TACC2_ENST00000358010.1_Splice_Site|TACC2_ENST00000453444.2_Splice_Site|TACC2_ENST00000369001.1_Splice_Site|TACC2_ENST00000360561.3_Splice_Site|TACC2_ENST00000515603.1_Splice_Site	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2							microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGATGATAGGTAGGTGTCCT	0.507000													12	110					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112586051	112586051	+	Silent	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr12:112586051T>C	ENST00000257604.5	+	8	1718	c.1101T>C	c.(1099-1101)atT>atC	p.I367I	TRAFD1_ENST00000412615.2_Silent_p.I367I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	367					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGAGCATCATTATCCCATGTG	0.517000													4	62					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98530369	98530369	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:98530369G>T	ENST00000326840.6	-	11	1755	c.1393C>A	c.(1393-1395)Cct>Act	p.P465T	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P465T	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	465	Poly-Pro.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTCCGAGGAGGTGGAGGTTGA	0.328000													12	73					0.0167234	0.0170545	1	1	0
LMNA	4000	broad.mit.edu	37	1	156108383	156108383	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:156108383C>T	ENST00000368300.4	+	11	2015	c.1803C>T	c.(1801-1803)agC>agT	p.S601S	LMNA_ENST00000347559.2_Silent_p.S571S|LMNA_ENST00000473598.2_Silent_p.S502S|LMNA_ENST00000448611.2_Silent_p.S489S|LMNA_ENST00000368299.3_Silent_p.S601S|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	601	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CATCTGCCAGCGGCTCAGGAG	0.697000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				5	26					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278802	152278802	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:152278802A>C	ENST00000368799.1	-	3	8595	c.8560T>G	c.(8560-8562)Tca>Gca	p.S2854A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2854	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGACCCTGAGTGCCTGGAG	0.572000									Ichthyosis				55	986					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184297479	184297479	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:184297479A>C	ENST00000330394.2	+	11	2381	c.1929A>C	c.(1927-1929)gaA>gaC	p.E643D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	643	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCAGGGGAATTTGGGGAAG	0.617000													5	47					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77916981	77916981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:77916981C>T	ENST00000529308.1	+	7	1552	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	USP35_ENST00000526425.1_Missense_Mutation_p.R162W|USP35_ENST00000441408.2_Silent_p.P15P|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	431					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TTTCTATCCCCGGCTCATGGC	0.562000													27	261					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88052251	88052251	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:88052251G>A	ENST00000393207.1	+	7	1070	c.849G>A	c.(847-849)ccG>ccA	p.P283P	BANP_ENST00000355022.4_Silent_p.P252P|BANP_ENST00000355163.5_Silent_p.P258P|BANP_ENST00000538234.1_Silent_p.P291P|BANP_ENST00000479780.2_Silent_p.P252P|BANP_ENST00000393208.2_Silent_p.P252P|BANP_ENST00000286122.7_Silent_p.P283P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	283	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCTGGACCCGCTCACCATCT	0.647000													3	5					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92625620	92625620	+	Silent	SNP	T	T	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr14:92625620T>A	ENST00000298875.4	+	14	2400	c.2115T>A	c.(2113-2115)ccT>ccA	p.P705P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	705					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CCTTGCCACCTCATGAGGTAA	0.368000													4	66					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64521397	64521397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:64521397G>T	ENST00000164139.3	-	10	1591	c.1193C>A	c.(1192-1194)cCg>cAg	p.P398Q	PYGM_ENST00000377432.3_Missense_Mutation_p.P310Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	398					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGGTGCCGCGGCAGCAGCGT	0.652000													3	18					1	1	1	1	0
UBR1	197131	broad.mit.edu	37	15	43350570	43350570	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:43350570T>C	ENST00000290650.4	-	10	1229	c.1151A>G	c.(1150-1152)tAc>tGc	p.Y384C	UBR1_ENST00000382177.2_Missense_Mutation_p.Y384C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	384					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAGTTTTTTGTATTCCATCTC	0.313000													16	106					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31597555	31597555	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:31597555G>A	ENST00000326132.5	+	6	594	c.435G>A	c.(433-435)ggG>ggA	p.G145G	RNF185_ENST00000426256.2_Silent_p.G83G|RNF185_ENST00000266252.7_Silent_p.G89G	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	145						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TTCCCTTTGGGATATTTGCCA	0.418000													4	161					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134120127	134120127	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:134120127T>A	ENST00000452510.2	+	10	1396	c.1238T>A	c.(1237-1239)aTt>aAt	p.I413N	DDX46_ENST00000354283.4_Missense_Mutation_p.I413N|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	413	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGAGATTTGATTGGCATTGCC	0.448000													4	139					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139674288	139674288	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr8:139674288G>A	ENST00000303045.6	-	43	3671	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	COL22A1_ENST00000435777.1_Silent_p.G1055G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1075	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCGGCTGGGCCCTGGGGGC	0.547000										HNSCC(7;0.00092)			4	86					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116838907	116838907	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:116838907C>T	ENST00000265132.3	-	2	493	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	77					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCTGATCTCCGCCTCTGTAG	0.612000													5	50					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7586031	7586031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:7586031C>T	ENST00000379802.3	+	24	8877	c.8536C>T	c.(8536-8538)Cgg>Tgg	p.R2846W	DSP_ENST00000418664.2_Missense_Mutation_p.R2247W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cAGTGGGTCCCGGAGAGGAAG	0.577000													14	86					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44971521	44971521	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:44971521T>C	ENST00000371460.1	-	8	723	c.406A>G	c.(406-408)Agt>Ggt	p.S136G	SUPT3H_ENST00000371459.1_Missense_Mutation_p.S125G|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S125G|SUPT3H_ENST00000371461.2_Missense_Mutation_p.S136G	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	207					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TTGCTGCCACTCAATTTGTCT	0.338000													8	66					0	0	1	0	0
SMDT1	91689	broad.mit.edu	37	22	42477982	42477982	+	Silent	SNP	C	C	T	rs143702734	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:42477982C>T	ENST00000331479.3	+	2	314	c.240C>T	c.(238-240)gtC>gtT	p.V80V	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		TTCTCTATGTCGGGACACTCA	0.488000													12	97					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537316	31537316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:31537316G>A	ENST00000261592.5	-	8	1699	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	NOL4_ENST00000538587.1_Missense_Mutation_p.R394W|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.R183W	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	468						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTTTCATCCGCCTGCAGGAC	0.418000													6	68					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85624650	85624650	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:85624650C>A	ENST00000341460.5	-	7	3417	c.3368G>T	c.(3367-3369)gGa>gTa	p.G1123V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1123					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTTTCTCCGATTTTTCT	0.363000													5	52					0.014758	0.0152007	1	1	0
ACP5	54	broad.mit.edu	37	19	11687262	11687262	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:11687262G>A	ENST00000592828.1	-	6	933	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Silent_p.D177D|ACP5_ENST00000412435.2_Silent_p.D177D|ACP5_ENST00000433365.2_Silent_p.D177D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	177				DVKL -> LT (in Ref. 1; AAA76849).	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						CCAGCTTCACGTCTCGGGGCC	0.597000													9	41					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153610803	153610803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:153610803C>T	ENST00000368694.3	+	3	410	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CHTOP_ENST00000368687.1_Missense_Mutation_p.T8M|CHTOP_ENST00000368690.3_Missense_Mutation_p.T33M|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000403433.1_Missense_Mutation_p.T33M	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	p.T33M(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AAACAGCCGACGCCAGTGAAT	0.428000													6	130					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648704	62648704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:62648704G>A	ENST00000337910.5	-	6	1059	c.722C>T	c.(721-723)cCg>cTg	p.P241L	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P241L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.P241L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTTGATGACCGGTGGAGGGGC	0.493000													23	146					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635003	6635003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:6635003G>A	ENST00000333172.6	+	3	1004	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.V271M	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	271					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCACCGTCGTGGTTGTTTT	0.617000													13	41					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377685	50377685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chrX:50377685G>A	ENST00000376020.2	-	4	1413	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCTCCTGTAGGGGGGCATGG	0.552000													21	50					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	rs149221149		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:153881733C>T	ENST00000511601.1	+	5	868	c.680C>T	c.(679-681)gCg>gTg	p.A227V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A227V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	227	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363000													10	94					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58292126	58292126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:58292126G>T	ENST00000300896.4	-	17	2071	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	USP32_ENST00000592339.1_Missense_Mutation_p.P296H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	626					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTCGGAGAAGGTACATTTCC	0.403000													8	41					4.68919e-08	5.24985e-08	1	1	0
C18orf56	494514	broad.mit.edu	37	18	658147	658147	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:658147C>A	ENST00000323813.3	-	1	193	c.101G>T	c.(100-102)tGt>tTt	p.C34F	TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.C34F	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	34							protein binding										GCGGGCAACACACACAGCAGC	0.692000													10	3					0.0692343	0.0699131	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	97					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65223278	65223278	+	RNA	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr7:65223278C>T	ENST00000442266.1	+	0	772																											TCGCTCTTCACAGAGCTAAAA	0.323000													3	19					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42114547	42114547	+	Silent	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:42114547C>A	ENST00000457542.2	+	26	3442	c.3156C>A	c.(3154-3156)ggC>ggA	p.G1052G	MAPKBP1_ENST00000221214.6_Silent_p.G935G|MAPKBP1_ENST00000260357.7_Silent_p.G891G|MAPKBP1_ENST00000514566.1_Silent_p.G1052G|MAPKBP1_ENST00000456763.2_Silent_p.G1058G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1058										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TACAGGAGGGCAGCCCCCAGA	0.572000													3	26					0.004672	0.00491037	1	1	0
CASP8	841	broad.mit.edu	37	2	202131273	202131273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:202131273C>T	ENST00000358485.4	+	2	437	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	CASP8_ENST00000392266.3_Missense_Mutation_p.L22F|CASP8_ENST00000432109.2_Missense_Mutation_p.L22F|CASP8_ENST00000392259.2_Missense_Mutation_p.L22F|CASP8_ENST00000323492.7_Missense_Mutation_p.L22F|CASP8_ENST00000392258.3_Missense_Mutation_p.L22F|CASP8_ENST00000264274.9_Missense_Mutation_p.L22F|CASP8_ENST00000264275.5_Missense_Mutation_p.L22F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	22					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCTGGCCTCCCTCAAGTTCCT	0.423000										HNSCC(4;0.00038)			7	55					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70642746	70642746	+	Silent	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:70642746A>G	ENST00000322773.4	+	7	840	c.738A>G	c.(736-738)tcA>tcG	p.S246S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	246					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGAAATATCAGATACTAAGG	0.328000													5	24					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Silent	SNP	G	G	A	rs114178008		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr13:19752452G>A	ENST00000400113.3	-	3	413	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527000													17	124					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844883	18844883	+	RNA	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr22:18844883C>T	ENST00000412938.1	+	0	3133																											GGGCAGCTCACGGAAATACAG	0.582000													5	82					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227135	28227135	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:28227135G>A	ENST00000343684.3	+	0	38					NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like											breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ACCGCCCAGCGTTGAGGCGCG	0.662000													6	26					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6190292	6190292	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:6190292G>A	ENST00000262450.3	-	22	3458	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1120	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTTCCAGTCCGAGTCGTAGAT	0.652000													8	45					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42946178	42946178	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:42946178C>T	ENST00000304611.8	-	1	780	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PEX6_ENST00000244546.4_Silent_p.P237P	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	237					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TAGCCAAGTGCGGCTGTGAAG	0.647000													4	76					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38189381	38189381	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:38189381G>A	ENST00000394126.1	-	7	1243	c.825C>T	c.(823-825)ctC>ctT	p.L275L	MED24_ENST00000356271.3_Silent_p.L237L|MED24_ENST00000501516.3_Silent_p.L269L|MED24_ENST00000394127.2_Silent_p.L237L|MED24_ENST00000394128.2_Silent_p.L250L			O75448	MED24_HUMAN	mediator complex subunit 24	250					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGGTGCCCTCGAGCAGGATCA	0.632000													8	58					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201791505	201791505	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr2:201791505T>C	ENST00000234296.2	-	12	1285	c.1036A>G	c.(1036-1038)Atc>Gtc	p.I346V		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	346					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTCACACTGATTCCAGGAAAG	0.373000													4	94					0	0	1	0	0
GCHFR	2644	broad.mit.edu	37	15	41059435	41059435	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:41059435A>C	ENST00000558467.1	+	2	314	c.92A>C	c.(91-93)tAc>tCc	p.Y31S	GCHFR_ENST00000559932.1_Missense_Mutation_p.Y31S|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Missense_Mutation_p.Y37S|GCHFR_ENST00000260447.4_Missense_Mutation_p.Y48S			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	48					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-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;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TATGAATACTACGTCGATGAC	0.607000													11	83					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58837961	58837961	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:58837961T>A	ENST00000414170.3	+	6	882	c.595T>A	c.(595-597)Ttg>Atg	p.L199M	LIPC_ENST00000433326.2_Missense_Mutation_p.L138M|LIPC_ENST00000356113.6_Missense_Mutation_p.L199M|LIPC_ENST00000299022.5_Missense_Mutation_p.L199M			P11150	LIPC_HUMAN	lipase, hepatic	199					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CGCGGGACCTTTGTTTGAGGG	0.517000													5	56					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344196	38344196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:38344196G>T	ENST00000374618.3	+	5	1322	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.E381*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.E388*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.E381*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	381						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACACACAGGGGAGAAACCTTT	0.428000													22	100					2.37509e-13	2.68829e-13	1	1	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130656799	130656799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr9:130656799C>T	ENST00000373146.1	-	4	468	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G97S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.G63S|ST6GALNAC6_ENST00000542456.1_Silent_p.S32S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	97					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCTTGTTGCCGAGAATGGGG	0.582000													9	91					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64859174	64859174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:64859174C>T	ENST00000261308.5	+	1	109	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	PPWD1_ENST00000538977.1_5'UTR|PPWD1_ENST00000535264.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	13	Poly-Arg.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAGCAGAGACGTAGAAGGCG	0.562000													13	71					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			14	34					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626747	49626747	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:49626747C>T	ENST00000371571.4	-	2	414	c.129G>A	c.(127-129)gcG>gcA	p.A43A	KCNG1_ENST00000396017.3_Silent_p.A43A	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	43						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGCCGCTGCGCCCGGCGGT	0.697000													5	27					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52780141	52780141	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr3:52780141T>G	ENST00000233027.5	-	10	1965	c.1763A>C	c.(1762-1764)aAc>aCc	p.N588T	NEK4_ENST00000535191.1_Missense_Mutation_p.N499T|NEK4_ENST00000383721.4_Missense_Mutation_p.N542T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	588					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCTACGTTGGTTTTCAGCCTC	0.413000													30	183					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991263	70991263	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr14:70991263C>A	ENST00000256389.3	-	2	606	c.362G>T	c.(361-363)aGa>aTa	p.R121I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	71					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACAATGTATCTCTGTCCCCC	0.532000													14	67					0.000151284	0.000164024	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154031152	154031152	+	Silent	SNP	A	A	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:154031152A>T	ENST00000368559.3	-	21	2939	c.2868T>A	c.(2866-2868)ccT>ccA	p.P956P	NUP210L_ENST00000271854.3_Silent_p.P956P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	956						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TAAAAAATCCAGGATGTAATG	0.433000													15	67					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7688059	7688059	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:7688059G>A	ENST00000358368.4	-	9	1273	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	XAB2_ENST00000534844.1_Silent_p.D409D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	412					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						TGCTCACATCGTCCAGCTGTC	0.527000								Direct reversal of damage;Nucleotide excision repair (NER)					4	71					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235993708	235993708	+	Missense_Mutation	SNP	C	C	T	rs141312203	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:235993708C>T	ENST00000389794.3	-	3	184	c.10G>A	c.(10-12)Gac>Aac	p.D4N	LYST_ENST00000389793.2_Missense_Mutation_p.D4N|LYST_ENST00000536965.1_Missense_Mutation_p.D4N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	4					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGTTACTGTCGGTGCTCATG	0.403000													9	36					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111299479	111299479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr13:111299479C>T	ENST00000257347.4	-	11	1225	c.1162G>A	c.(1162-1164)Ggc>Agc	p.G388S	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	388					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTGACGGAGCCGCAGGCCAGC	0.667000													3	7					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145636573	145636573	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr4:145636573G>C	ENST00000296575.3	+	10	2324	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	557						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATTTGGAGAAGATGAACTAGG	0.423000													19	117					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	190					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112929033	112929033	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr5:112929033C>A	ENST00000161863.4	+	29	4459	c.4246C>A	c.(4246-4248)Cag>Aag	p.Q1416K		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1416	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACAGTTGCTCCAGTTATGGGA	0.363000													8	49					3.09899e-07	3.43221e-07	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22383025	22383025	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr15:22383025A>G	ENST00000328795.4	+	1	644	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCGACAGGTCATCAAGCTGGC	0.522000													18	145					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794848	30794848	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:30794848G>A	ENST00000262525.4	-	3	1008	c.801C>T	c.(799-801)tgC>tgT	p.C267C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGCCCGGCGGCACTCGCCGC	0.637000													4	91					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57025799	57025799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr8:57025799G>A	ENST00000311923.1	-	1	742	c.743C>T	c.(742-744)cCg>cTg	p.P248L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	248	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGGAGCTCCGGGGCGCGGTG	0.537000													5	66					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662000													10	28					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	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													4	50					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181289	68181289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr11:68181289G>A	ENST00000294304.7	+	12	2742	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	879	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCGGAACCGCACCCTCATC	0.587000													4	59					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377686	50377686	+	Missense_Mutation	SNP	G	G	T	rs147607307	byFrequency	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chrX:50377686G>T	ENST00000376020.2	-	4	1412	c.1387C>A	c.(1387-1389)Cct>Act	p.P463T	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P347T|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P463T	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCTCCTGTAGGGGGGCATGGA	0.557000													19	50					8.81451e-21	1.00877e-20	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77246756	77246756	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr18:77246756G>A	ENST00000329101.4	+	9	2618	c.2562G>A	c.(2560-2562)gcG>gcA	p.A854A	NFATC1_ENST00000427363.2_Silent_p.A867A|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Silent_p.A395A|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	867	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCAGCCCAGCGTGCCCGCCCG	0.741000													6	37					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													6	111					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78362441	78362441	+	Silent	SNP	G	G	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000266692.7_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCTCCATCGGAAGCCAGCC	0.458000										HNSCC(70;0.22)			8	69					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67423735	67423744	+	Splice_Site	DEL	TATTTAGGAA	TATTTAGGAA	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:67423735_67423744delTATTTAGGAA	ENST00000357692.2	+	6	488_491	c.231_splice	c.e6-1	p.77_splice	MIER1_ENST00000371014.1_Splice_Site_p.113_splice|MIER1_ENST00000371016.1_Splice_Site_p.77_splice|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000371018.3_Splice_Site_p.77_splice|MIER1_ENST00000401042.3_Splice_Site_p.60_splice|MIER1_ENST00000401041.1_Splice_Site_p.113_splice|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Splice_Site_p.60_splice	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	84	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TATTTTGATTTATTTAGGAAGGCGACATGC	0.367													8	69	---	---	---	---					
HDGF	3068	broad.mit.edu	37	1	156713619	156713619	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr1:156713619delC	ENST00000357325.5	-	5	855	c.541delG	c.(541-543)agfs	p.E181fs	HDGF_ENST00000416666.2_Frame_Shift_Del_p.E149fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.E174fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.E181fs|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Frame_Shift_Del_p.E197fs	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	181	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GTGGCTGCCTCCTTCTCCTCT	0.607													8	42	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)gaa>g	p.GE121del	EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	39	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64966991	64966992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr10:64966991_64966992insA	ENST00000399262.2	-	10	4655_4656	c.4437_4438insT	c.(4435-4440)tttccafs	p.P1480fs	JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.P1261fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.P1298fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.P1261fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1480					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTAAATGGATAAAATCAGTTG	0.416													12	84	---	---	---	---					
TNP2	7142	broad.mit.edu	37	16	11363090	11363090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr16:11363090delG	ENST00000312693.3	-	1	99	c.30delC	c.(28-30)atfs	p.I10fs	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	10					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GAGTGTGGGTGATAGGAAGGC	0.602													9	84	---	---	---	---					
ONECUT3	390874	broad.mit.edu	37	19	1775407	1775408	+	Frame_Shift_Ins	INS	-	-	C	rs140318443	by1000genomes	TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr19:1775407_1775408insC	ENST00000382349.4	+	2	2738_2739	c.1448_1449insC	c.(1447-1449)gccfs	p.A483fs		NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN	one cut homeobox 3	483					endocrine pancreas development		sequence-specific DNA binding						Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)		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)		gcccccgggggccccgccggcg	0.738													2	4	---	---	---	---					
ITCH	83737	broad.mit.edu	37	20	33033102	33033103	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JO-01B-11D-A34J-08	TCGA-CV-A6JO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e12d842d-b412-41d6-9be6-f8d1fe157564	b9f34058-a7c9-4b19-a4d9-331975a6a472	g.chr20:33033102_33033103insG	ENST00000374864.4	+	11	1189_1190	c.976_977insG	c.(976-978)ggtfs	p.G326fs	ITCH_ENST00000535650.1_Frame_Shift_Ins_p.G216fs|ITCH_ENST00000262650.6_Frame_Shift_Ins_p.G367fs	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	367	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGGAACGGCGGGTTGACAAC	0.371													10	83	---	---	---	---					
