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
COL6A3	1293	broad.mit.edu	37	2	238270405	238270405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:238270405G>A	ENST00000295550.4	-	15	6585	c.6133C>T	c.(6133-6135)Ccc>Tcc	p.P2045S	COL6A3_ENST00000353578.4_Missense_Mutation_p.P1839S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1839S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1844S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1438S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1845S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2045	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCGATGGGCCCGCGGTCT	0.562000													18	127					0	0	0.000175454	0	0
PACS2	23241	broad.mit.edu	37	14	105814892	105814892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:105814892C>T	ENST00000447393.1	+	2	357	c.182C>T	c.(181-183)tCc>tTc	p.S61F	PACS2_ENST00000547217.1_Missense_Mutation_p.S61F|PACS2_ENST00000458164.2_Missense_Mutation_p.S61F|PACS2_ENST00000325438.8_Missense_Mutation_p.S61F|PACS2_ENST00000430725.2_5'UTR	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	61					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAGCTGATCTCCGTGGTGATC	0.617000													11	97					0	0	6.40141e-05	0	0
CITED1	4435	broad.mit.edu	37	X	71521587	71521587	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:71521587G>A	ENST00000246139.5	-	3	1143	c.568C>T	c.(568-570)Cca>Tca	p.P190S	CITED1_ENST00000373619.3_Missense_Mutation_p.P190S|CITED1_ENST00000445983.1_Missense_Mutation_p.P190S|CITED1_ENST00000431381.1_Missense_Mutation_p.P216S	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	190					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					CAGCTAGATGGAAAGTCCGCA	0.483000													18	28					0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9068756	9068756	+	Silent	SNP	T	T	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9068756T>A	ENST00000397910.4	-	3	18893	c.18690A>T	c.(18688-18690)acA>acT	p.T6230T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6232	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTGAGGTTGTCACAAGGA	0.488000													8	51					0	0	0.000274275	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499675	27499675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:27499675C>T	ENST00000356183.4	-	23	3588	c.3573G>A	c.(3571-3573)tgG>tgA	p.W1191*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.W1191*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1191						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTGCTCTTCCCAGCCAGCAC	0.562000													36	190					0	0	0.000228196	0	0
DRP2	1821	broad.mit.edu	37	X	100505941	100505941	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:100505941C>T	ENST00000395209.3	+	16	2261	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	DRP2_ENST00000538510.1_Silent_p.F578F|DRP2_ENST00000402866.1_Silent_p.F578F|DRP2_ENST00000541709.1_Silent_p.F500F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	578					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CATCCCAGTTCCTGGAGTGGG	0.537000													20	41					0	0	0.000175454	0	0
FAM114A2	10827	broad.mit.edu	37	5	153414364	153414364	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:153414364C>T	ENST00000351797.4	-	2	226	c.150G>A	c.(148-150)cgG>cgA	p.R50R	FAM114A2_ENST00000520667.1_Silent_p.R50R|FAM114A2_ENST00000522858.1_Silent_p.R50R|FAM114A2_ENST00000520313.1_Intron	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	50							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTGGTCTTTTCCGAGTGGAAA	0.433000													16	89					0	0	0.000958276	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029395	83029395	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:83029395C>T	ENST00000307792.3	-	11	1782	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D379N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	439	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCACTCGATCTACTGCTATT	0.368000													5	38					0	0	0.000602214	0	0
EVX2	344191	broad.mit.edu	37	2	176948300	176948300	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:176948300C>T	ENST00000308618.4	-	1	341	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCGAATTTGCCCTTGGCGGGG	0.632000													31	70					0	0	0.000339439	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791039	133791039	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:133791039C>T	ENST00000321016.8	-	18	2811	c.2581G>A	c.(2581-2583)Gac>Aac	p.D861N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D861N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	861						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCGGCAGGGTCCATCACGAAG	0.657000													25	46					0	0	0.000878237	0	0
DNAJC10	54431	broad.mit.edu	37	2	183621054	183621054	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:183621054C>T	ENST00000264065.6	+	18	2082	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	556					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTATGAATCCTTCAGTGGTC	0.383000													10	33					0	0	6.40141e-05	0	0
SPI1	6688	broad.mit.edu	37	11	47399874	47399874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:47399874G>A	ENST00000378538.3	-	1	253	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SPI1_ENST00000533968.1_Missense_Mutation_p.P11S|SPI1_ENST00000227163.4_Missense_Mutation_p.P11S|SPI1_ENST00000533030.1_Missense_Mutation_p.P11S	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	11					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGGACGAGGGGAAACCCTTCC	0.682000													8	13					0	0	0.000274275	0	0
POLR2B	5431	broad.mit.edu	37	4	57876933	57876933	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:57876933T>A	ENST00000381227.1	+	13	1981	c.1568T>A	c.(1567-1569)gTg>gAg	p.V523E	POLR2B_ENST00000441246.2_Missense_Mutation_p.V516E|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Missense_Mutation_p.V448E|POLR2B_ENST00000314595.5_Missense_Mutation_p.V523E			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	523					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTAGGACTTGTGAAGAATTTA	0.328000													15	101					0	0	0.000422831	0	0
HAL	3034	broad.mit.edu	37	12	96387588	96387588	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:96387588C>T	ENST00000261208.3	-	7	881	c.513G>A	c.(511-513)ggG>ggA	p.G171G	HAL_ENST00000538703.1_Silent_p.G171G|HAL_ENST00000541929.1_Intron	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	171					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGGCAAATTTCCCAAAACCTG	0.284000													5	42					0	0	0.000157383	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902209	230902209	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:230902209A>T	ENST00000295190.4	-	5	1878	c.1420T>A	c.(1420-1422)Ttc>Atc	p.F474I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	474						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATATGTAGAAGGAAAAATCA	0.328000													10	44					0	0	0.000442599	0	0
PTCH2	8643	broad.mit.edu	37	1	45295698	45295698	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:45295698G>A	ENST00000447098.2	-	7	829	c.818C>T	c.(817-819)cCc>cTc	p.P273L	PTCH2_ENST00000372192.3_Missense_Mutation_p.P273L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	273					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCACATTGGGAGCCTGGAG	0.607000									Basal Cell Nevus syndrome				42	46					0	0	0.000781405	0	0
ATP7B	540	broad.mit.edu	37	13	52539038	52539038	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:52539038G>A	ENST00000242839.4	-	5	1995	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ATP7B_ENST00000344297.5_Silent_p.I613I|ATP7B_ENST00000400366.3_Silent_p.I502I|ATP7B_ENST00000448424.2_Silent_p.I613I|ATP7B_ENST00000418097.2_Silent_p.I613I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	613	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCGTGGACCGATAATTTCCG	0.368000									Wilson disease				20	89					0	0	0.000229342	0	0
STARD13	90627	broad.mit.edu	37	13	33681026	33681026	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:33681026G>A	ENST00000336934.5	-	13	3209	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S	STARD13_ENST00000255486.4_Silent_p.S1023S|STARD13_ENST00000399365.3_Silent_p.S913S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1031	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCACGGAGAGGGACACCAGGG	0.532000													8	64					0	0	0.000442599	0	0
HOXB6	3216	broad.mit.edu	37	17	46673918	46673918	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:46673918C>T	ENST00000484302.2	-	3	1154	c.532G>A	c.(532-534)Gag>Aag	p.E178K	HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.E178K|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000477144.1_RNA			P17509	HXB6_HUMAN	homeobox B6	178					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGCGCGATCTCGATGCGCCGC	0.602000													16	235					0	0	0.000132079	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327101	28327101	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:28327101T>G	ENST00000284987.5	-	2	1315	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	398	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCCATCGTCTTCAATCACAG	0.517000													5	22					0	0	3.59834e-05	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430814	67430814	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:67430814G>A	ENST00000349015.3	-	10	1468	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.H344Y	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	344					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGTGCGGTGGTGGGAGAAG	0.612000													12	28					0	0	0.000151284	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715239	92715239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:92715239C>T	ENST00000257068.2	+	2	856	c.850C>T	c.(850-852)Cag>Tag	p.Q284*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	284					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATGGCTCCCCAGATCCCTGA	0.502000													140	236					0	0	0.000781405	0	0
FAM179A	165186	broad.mit.edu	37	2	29256429	29256429	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:29256429G>A	ENST00000379558.4	+	16	2576	c.2225_splice	c.e16+1	p.G742_splice	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Splice_Site_p.G687_splice	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	742							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCAAGGAGGGGTATGGCTGC	0.537000													8	20					0	0	0.000274275	0	0
DSP	1832	broad.mit.edu	37	6	7585419	7585419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:7585419G>A	ENST00000379802.3	+	24	8265	c.7924G>A	c.(7924-7926)Gtt>Att	p.V2642I	DSP_ENST00000418664.2_Missense_Mutation_p.V2043I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2642	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)		GCGGGGCATCGTTGACAGCAT	0.537000													26	100					0	0	0.000184323	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670604	131670604	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:131670604C>T	ENST00000259324.5	+	3	1684	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	LRRC8A_ENST00000372599.3_Silent_p.S387S|LRRC8A_ENST00000372600.4_Silent_p.S387S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	387					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCTCTACTCCAAGCGCTTCG	0.587000													27	48					0	0	0.000491102	0	0
MYH4	4622	broad.mit.edu	37	17	10360795	10360795	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10360795C>T	ENST00000255381.2	-	16	1949	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	613	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGCAGACTTCTGGTACAGCC	0.498000													5	15					0	0	0.000602214	0	0
ITSN1	6453	broad.mit.edu	37	21	35247714	35247714	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:35247714G>A	ENST00000381318.3	+	34	4518	c.4230G>A	c.(4228-4230)ctG>ctA	p.L1410L	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Silent_p.L1410L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1405L|ITSN1_ENST00000437442.2_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1410	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCACGCCCTGGAGAAGGCGG	0.557000													10	69					0	0	0.00010058	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187715	133187715	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:133187715G>A	ENST00000388996.4	-	5	1338	c.918C>T	c.(916-918)gcC>gcT	p.A306A	KCNQ3_ENST00000519445.1_Silent_p.A306A|KCNQ3_ENST00000521134.1_Silent_p.A186A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	306					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACCACAGGGCATCTGCAT	0.502000													14	59					0	0	0.00074312	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483133	54483133	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:54483133G>A	ENST00000317802.7	-	1	276	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	52					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGGAAGCCGGGGCGGTGGGA	0.607000													23	102					0	0	0.000878237	0	0
GDF15	9518	broad.mit.edu	37	19	18497249	18497249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:18497249C>T	ENST00000595973.1	+	2	801	c.250C>T	c.(250-252)Cct>Tct	p.P84S	GDF15_ENST00000252809.3_Missense_Mutation_p.P84S			Q99988	GDF15_HUMAN	growth differentiation factor 15	84					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CGTCCCGGCCCCTGCAGTCCG	0.577000													5	27					0	0	0.000602214	0	0
TRIM38	10475	broad.mit.edu	37	6	25983438	25983438	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:25983438C>T	ENST00000357085.3	+	8	1397	c.921C>T	c.(919-921)ctC>ctT	p.L307L	TRIM38_ENST00000349458.3_Silent_p.L307L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	307	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AACTAATTCTCTCTGAGGATC	0.433000													10	34					0	0	0.00010058	0	0
TMEM211	255349	broad.mit.edu	37	22	25331491	25331491	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:25331491C>T	ENST00000407886.1	-	4	451	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	TMEM211_ENST00000423535.1_Missense_Mutation_p.E138K|TMEM211_ENST00000382744.1_Missense_Mutation_p.E67K			Q6ICI0	TM211_HUMAN	transmembrane protein 211	138						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GAGGAGGCTTCGCACACTTCC	0.532000													28	40					0	0	0.000279167	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802889	159802889	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:159802889G>A	ENST00000289707.5	+	3	740	c.591G>A	c.(589-591)gtG>gtA	p.V197V	SLAMF8_ENST00000368104.4_Silent_p.V88V|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	197	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACAGAGATGTGGCCTATTCCT	0.567000													7	66					0	0	0.000157383	0	0
CDC7	8317	broad.mit.edu	37	1	91985787	91985787	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:91985787T>G	ENST00000428239.1	+	11	1540	c.1281T>G	c.(1279-1281)atT>atG	p.I427M	CDC7_ENST00000430031.2_Missense_Mutation_p.I399M|CDC7_ENST00000234626.6_Missense_Mutation_p.I427M	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	427	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TGGCCCAAATTATGACAATTA	0.358000													5	19					0	0	0.000602214	0	0
POTEE	445582	broad.mit.edu	37	2	132021837	132021837	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:132021837G>A	ENST00000356920.5	+	15	2903	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	937	Actin-like.						ATP binding	p.E937K(1)									CTCCTCCCTAGAGAAGAGCTA	0.627000													36	179					0	0	0.000191422	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675118	40675118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:40675118C>T	ENST00000416151.2	+	1	197	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	KNSTRN_ENST00000249776.8_Missense_Mutation_p.P28S|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P28S	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CCACCCACTTCCGCCTAGCTA	0.562000													10	87					0	0	0.000673444	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885041	12885041	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:12885041T>C	ENST00000535591.1	-	4	1265	c.1070A>G	c.(1069-1071)aAc>aGc	p.N357S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	357										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCTCAGCAGGTTCTCCAGGGT	0.542000													78	125					0	0	0.000781405	0	0
DDX10	1662	broad.mit.edu	37	11	108562663	108562663	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:108562663C>T	ENST00000526794.1	+	8	1068	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	DDX10_ENST00000322536.3_Missense_Mutation_p.H346Y			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	346	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCTTGCACTCCATGGTCGACA	0.468000			T	NUP98	AML*								14	28					0	0	0.000219431	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734808	176734808	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:176734808C>T	ENST00000367662.3	+	15	5322	c.4158C>T	c.(4156-4158)atC>atT	p.I1386I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1386					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGCTGTATCCATCGGCCCT	0.507000													38	46					0	0	0.000374591	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65226364	65226364	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:65226364C>T	ENST00000380230.3	+	9	826	c.797C>T	c.(796-798)gCc>gTc	p.A266V	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A266V|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A266V|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A175V	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	266					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CACTATGCAGCCCTCAGTGGC	0.527000													20	109					0	0	0.000295444	0	0
PROKR2	128674	broad.mit.edu	37	20	5283169	5283169	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:5283169G>A	ENST00000546004.1	-	3	918	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PROKR2_ENST00000217270.3_Silent_p.F224F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	224						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGATGAAGAGGAAGTAGGACT	0.537000										HNSCC(71;0.22)			13	67					0	0	0.000151284	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988032	154988032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154988032C>T	ENST00000368426.3	+	3	1033	c.896C>T	c.(895-897)tCc>tTc	p.S299F	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S299F|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S333F|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S299F	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	299					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCCGCTGTCCCCAGAGGAG	0.632000													5	47					0	0	0.000602214	0	0
NLRP3	114548	broad.mit.edu	37	1	247587649	247587649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:247587649G>A	ENST00000366497.2	+	4	1684	c.904G>A	c.(904-906)Gac>Aac	p.D302N	NLRP3_ENST00000391827.2_Missense_Mutation_p.D302N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.D302N|NLRP3_ENST00000336119.3_Missense_Mutation_p.D302N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D302N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D302N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	302	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTTCCTCATGGACGGCTTCGA	0.587000													18	83					0	0	0.000175454	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998840	72998840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:72998840C>T	ENST00000322038.5	+	2	1927	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S493F	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCCGCGGGGTCCACGACTTCT	0.597000													20	58					0	0	0.000175454	0	0
CXorf23	256643	broad.mit.edu	37	X	19983592	19983592	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:19983592G>A	ENST00000379687.3	-	3	877	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	CXorf23_ENST00000356980.3_Missense_Mutation_p.R282C|CXorf23_ENST00000379682.4_Missense_Mutation_p.R282C	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	282						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CGTTTGTGACGATAGTCATAG	0.453000													11	26					0	0	0.000151284	0	0
GRM4	2914	broad.mit.edu	37	6	34101042	34101042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:34101042G>A	ENST00000374181.3	-	1	401	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	GRM4_ENST00000538487.1_Missense_Mutation_p.R78W|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	78					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCCTCCAGCCGGTGGATGCCC	0.617000													8	31					0	0	0.000157383	0	0
SPTLC2	9517	broad.mit.edu	37	14	77987829	77987829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:77987829G>A	ENST00000216484.2	-	10	1592	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	467				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCACTACTGGAGAGTCTTCA	0.448000													10	31					0	0	0.000442599	0	0
SSX3	10214	broad.mit.edu	37	X	48214155	48214155	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:48214155G>A	ENST00000298396.2	-	3	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SSX3_ENST00000376893.3_Silent_p.F32F	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	32	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CTTCCTTAGAGAAGTATTTGG	0.408000													8	35					0	0	0.000157383	0	0
CHAT	1103	broad.mit.edu	37	10	50854660	50854660	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:50854660C>T	ENST00000395562.2	+	9	1444	c.975C>T	c.(973-975)ctC>ctT	p.L325L	CHAT_ENST00000395559.2_Silent_p.L289L|CHAT_ENST00000455728.2_Silent_p.L289L|CHAT_ENST00000351556.3_Silent_p.L289L|CHAT_ENST00000339797.1_Silent_p.L289L|CHAT_ENST00000337653.2_Silent_p.L407L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	407					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CACTCCAGCTCCTTCACGGCG	0.637000													13	55					0	0	0.000219431	0	0
HABP2	3026	broad.mit.edu	37	10	115335690	115335690	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:115335690G>A	ENST00000537906.1	+	5	386	c.224G>A	c.(223-225)gGg>gAg	p.G75E	HABP2_ENST00000541666.1_Silent_p.G86G|HABP2_ENST00000351270.3_Silent_p.G86G|HABP2_ENST00000542051.1_Silent_p.G60G			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	0	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACACGGTGGGGACTGCCTCG	0.547000													21	88					0	0	0.000295444	0	0
MAP3K15	389840	broad.mit.edu	37	X	19413209	19413209	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:19413209C>A	ENST00000338883.4	-	16	2183	c.2184G>T	c.(2182-2184)caG>caT	p.Q728H	MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q163H|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q560H	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	728	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCCAGGCACCTGCTCCATAA	0.463000													14	50					9.31168e-06	0.000150149	0.000151284	1	0
COL6A2	1292	broad.mit.edu	37	21	47531410	47531410	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:47531410C>T	ENST00000300527.4	+	2	124	c.20C>T	c.(19-21)tCc>tTc	p.S7F	COL6A2_ENST00000409416.1_Missense_Mutation_p.S7F|COL6A2_ENST00000397763.1_Missense_Mutation_p.S7F|COL6A2_ENST00000310645.5_Missense_Mutation_p.S7F|COL6A2_ENST00000357838.4_Missense_Mutation_p.S7F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	7					axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCACCTGCTCCGTGCTCCTG	0.657000													8	48					0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196774799	196774799	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:196774799G>A	ENST00000312428.6	-	25	4156	c.4056C>T	c.(4054-4056)ttC>ttT	p.F1352F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1352	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAGCAGTTGAAAACAACAC	0.423000													5	19					0	0	0.000602214	0	0
DUSP27	92235	broad.mit.edu	37	1	167096537	167096537	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:167096537C>T	ENST00000361200.2	+	6	2335	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	DUSP27_ENST00000271385.5_Silent_p.I723I|DUSP27_ENST00000443333.1_Silent_p.I723I|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	723					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGCCAGTATCCAGAACTGGA	0.542000													30	65					0	0	0.00058488	0	0
FGF13	2258	broad.mit.edu	37	X	137715099	137715099	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:137715099C>T	ENST00000315930.6	-	5	1311	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	FGF13_ENST00000305414.4_Missense_Mutation_p.R164Q|FGF13_ENST00000541469.1_Missense_Mutation_p.R171Q|FGF13_ENST00000441825.2_Missense_Mutation_p.R198Q|FGF13_ENST00000370603.3_Missense_Mutation_p.R227Q	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	217					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.R217Q(2)|p.R227Q(2)|p.R164Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCCAGATCGGGAGAACTC	0.517000													11	26					0	0	0.00010058	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937835	15937835	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:15937835T>A	ENST00000382333.1	-	3	715	c.421A>T	c.(421-423)Aag>Tag	p.K141*	FGFBP1_ENST00000259988.2_Nonsense_Mutation_p.K141*	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	141					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GGAAAATCCTTTCTGCACACT	0.468000													8	41					0	0	0.000274275	0	0
ADAM29	11086	broad.mit.edu	37	4	175898651	175898651	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:175898651G>A	ENST00000359240.3	+	5	2645	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	ADAM29_ENST00000404450.4_Missense_Mutation_p.G659R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	659					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAAGGCTATGGAGGTAGTGT	0.403000													4	10					0	0	0.000602214	0	0
MUC2	4583	broad.mit.edu	37	11	1095748	1095748	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:1095748G>A	ENST00000441003.2	+	33	6286	c.6259G>A	c.(6259-6261)Gag>Aag	p.E2087K	MUC2_ENST00000361558.6_Missense_Mutation_p.E225K|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4449						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGGAGTGTGAGCCGCCGCC	0.652000													5	7					0	0	3.59834e-05	0	0
TPO	7173	broad.mit.edu	37	2	1459887	1459887	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:1459887G>A	ENST00000345913.4	+	7	743	c.652G>A	c.(652-654)Gag>Aag	p.E218K	TPO_ENST00000382201.3_Missense_Mutation_p.E218K|TPO_ENST00000346956.3_Missense_Mutation_p.E218K|TPO_ENST00000349624.3_Missense_Mutation_p.E218K|TPO_ENST00000329066.4_Missense_Mutation_p.E218K|TPO_ENST00000337415.3_Missense_Mutation_p.E218K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E218K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	218					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGTTTCAAATGAGGTTGTCAC	0.512000													8	21					0	0	0.000442599	0	0
ABCA4	24	broad.mit.edu	37	1	94506906	94506906	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:94506906C>T	ENST00000370225.3	-	23	3467	c.3381G>A	c.(3379-3381)ggG>ggA	p.G1127G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1127	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAATGCGGTCCCCAAGGAGGT	0.592000													10	40					0	0	0.000673444	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336468	30336468	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:30336468C>T	ENST00000375377.1	-	2	375	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	92										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TACCCCGCCTCCGAGGTTCTG	0.557000													8	33					0	0	0.000442599	0	0
RTP1	132112	broad.mit.edu	37	3	186915469	186915469	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:186915469G>A	ENST00000312295.4	+	1	196	c.166G>A	c.(166-168)Gag>Aag	p.E56K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	56					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GAAGATGGAGGAGGCAAAGCC	0.507000													15	34					0	0	0.000566183	0	0
SPTLC2	9517	broad.mit.edu	37	14	77987828	77987828	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:77987828G>A	ENST00000216484.2	-	10	1593	c.1400C>T	c.(1399-1401)cCa>cTa	p.P467L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	467				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGCACTACTGGAGAGTCTTC	0.448000													10	35					0	0	0.000442599	0	0
SAMD9	54809	broad.mit.edu	37	7	92730882	92730882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:92730882G>A	ENST00000379958.2	-	3	4798	c.4529C>T	c.(4528-4530)tCc>tTc	p.S1510F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1510						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCCACAAGGAATTAATATC	0.358000													7	29					0	0	8.12818e-05	0	0
TMC2	117532	broad.mit.edu	37	20	2559848	2559848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:2559848G>A	ENST00000358864.1	+	6	717	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	234	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATCCCCTGGGAAATGAAGA	0.368000													12	38					0	0	0.000422831	0	0
POLR2B	5431	broad.mit.edu	37	4	57876932	57876932	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:57876932G>A	ENST00000381227.1	+	13	1980	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	POLR2B_ENST00000441246.2_Missense_Mutation_p.V516M|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Missense_Mutation_p.V448M|POLR2B_ENST00000314595.5_Missense_Mutation_p.V523M			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	523					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGGACTTGTGAAGAATTT	0.328000													16	97					0	0	0.000422831	0	0
TLR1	7096	broad.mit.edu	37	4	38798570	38798570	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:38798570A>G	ENST00000308979.2	-	4	2156	c.1883T>C	c.(1882-1884)tTa>tCa	p.L628S	TLR1_ENST00000502213.2_Missense_Mutation_p.L628S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	628					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAGTTCTTCTAAGGGTATGTT	0.483000													8	35					0	0	0.000442599	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378904	16378904	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:16378904C>T	ENST00000375679.4	+	15	1731	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	CLCNKB_ENST00000375667.3_Silent_p.I371I	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGCAACATCGGGTGAGTGG	0.587000													13	57					0	0	0.000422831	0	0
TRHDE	29953	broad.mit.edu	37	12	73012805	73012805	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:73012805A>G	ENST00000261180.4	+	13	2417	c.2321A>G	c.(2320-2322)tAc>tGc	p.Y774C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	774					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGGAAAACTACAACATTTTC	0.333000													6	12					0	0	8.12818e-05	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227064	25227064	+	RNA	SNP	T	T	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:25227064T>G	ENST00000551631.2	+	0	367					NR_001293.1																						TAAGTGCTTTTAGGACAGAAA	0.398000													16	121					0	0	0.000308642	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320568	136320568	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:136320568C>T	ENST00000371929.3	+	25	3855	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000355699.2_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1137					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTACGCCCAGCCTGGTGCCCC	0.697000													14	63					0	0	0.000422831	0	0
GPR123	84435	broad.mit.edu	37	10	134898381	134898381	+	Silent	SNP	C	C	T	rs140828209	by1000genomes	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:134898381C>T	ENST00000607359.1	+	8	1443	c.1443C>T	c.(1441-1443)atC>atT	p.I481I				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	230						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGAAGGAATCGCACCTGGGG	0.622000													5	23					0	0	0.000602214	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907154	29907154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:29907154C>T	ENST00000308713.5	-	4	1066	c.539G>A	c.(538-540)gGc>gAc	p.G180D	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G136D|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G110D	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	180	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACCCTTCGCCCTCGGAGAT	0.572000													7	81					0	0	0.000274275	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422922	42422922	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:42422922G>A	ENST00000328823.9	+	6	698	c.667G>A	c.(667-669)Gga>Aga	p.G223R	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G149R	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	223	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCACCTCTTGGATACGGAGC	0.607000													66	102					0	0	0.000781405	0	0
MUC4	4585	broad.mit.edu	37	3	195501092	195501092	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:195501092T>C	ENST00000463781.3	-	4	13487	c.13028A>G	c.(13027-13029)aAg>aGg	p.K4343R	MUC4_ENST00000475231.1_Missense_Mutation_p.K4343R|MUC4_ENST00000346145.4_Missense_Mutation_p.K107R|MUC4_ENST00000349607.4_Missense_Mutation_p.K56R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1100					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTCGCCGGCTTGAAGAGTGG	0.662000													10	31					0	0	0.000673444	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885919	70885919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:70885919C>T	ENST00000333538.5	+	5	1424	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	264						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCCGCATCCAGGAAAACCG	0.537000													65	148					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9060133	9060133	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9060133C>T	ENST00000397910.4	-	3	27516	c.27313G>A	c.(27313-27315)Ggg>Agg	p.G9105R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9107	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTGGGTCCCTGACATAAAA	0.478000													15	21					0	0	0.000308642	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798353	185798353	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:185798353G>A	ENST00000302277.6	+	3	873	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	93						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACAAAGGGAATTTGCTC	0.353000													7	3					0	0	8.12818e-05	0	0
CCDC108	255101	broad.mit.edu	37	2	219888059	219888059	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:219888059G>A	ENST00000341552.5	-	16	2773	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F	CCDC108_ENST00000453220.1_Missense_Mutation_p.S897F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S897F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	897	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTGGTGGAGGAGCAGCC	0.632000													7	49					0	0	0.000157383	0	0
UNC13C	440279	broad.mit.edu	37	15	54305995	54305995	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:54305995C>T	ENST00000545554.1	+	1	895	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	UNC13C_ENST00000260323.11_Missense_Mutation_p.R299W|UNC13C_ENST00000537900.1_Missense_Mutation_p.R299W			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	299					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCCAGTCTCGGAGGGAAAC	0.443000													11	35					0	0	0.00010058	0	0
KRT5	3852	broad.mit.edu	37	12	52910587	52910587	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:52910587G>A	ENST00000252242.4	-	7	1663	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	425	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCATCCTTGAGGGCCAGCTCC	0.617000													5	61					0	0	0.000602214	0	0
ZNF677	342926	broad.mit.edu	37	19	53740999	53740999	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:53740999G>A	ENST00000333952.4	-	5	1146	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ZNF677_ENST00000598513.1_Silent_p.V327V			Q86XU0	ZN677_HUMAN	zinc finger protein 677	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTGACTACAGACCTTGCCAC	0.413000													5	31					0	0	0.000602214	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455097	84455097	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:84455097G>A	ENST00000377084.2	-	1	1431	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	182						integral to membrane		p.L182L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCGGAGGTCGAGGTGGGTGA	0.527000													31	67					0	0	0.000491102	0	0
VENTX	27287	broad.mit.edu	37	10	135053799	135053799	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:135053799G>A	ENST00000325980.9	+	3	1277	c.766G>A	c.(766-768)Gat>Aat	p.D256N		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	256					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D256H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACAGACGGGGGATGCATTTTG	0.647000													8	29					0	0	0.000442599	0	0
WDR20	91833	broad.mit.edu	37	14	102661347	102661347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:102661347C>T	ENST00000322340.5	+	2	371	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	WDR20_ENST00000335263.5_Missense_Mutation_p.H108Y|WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.H108Y|WDR20_ENST00000424963.2_Intron|WDR20_ENST00000342702.3_Missense_Mutation_p.H108Y|WDR20_ENST00000299135.6_Intron|WDR20_ENST00000558567.1_Missense_Mutation_p.H108Y|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000556807.1_Intron|WDR20_ENST00000556511.2_Intron	NM_001242415.1	NP_001229344.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	108										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGACTTCAACCACCTAACAGC	0.418000													8	70					0	0	0.000157383	0	0
NDUFA13	51079	broad.mit.edu	37	19	19627027	19627027	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:19627027G>A	ENST00000252576.5	+	1	229	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCGGGACCGGAAGTGTGGGA	0.622000													8	48					0	0	0.000442599	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477247	42477247	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:42477247G>A	ENST00000434000.1	-	9	2246	c.1964C>T	c.(1963-1965)cCa>cTa	p.P655L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P733L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	733						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGGGGTTCTGGTTTGGGTCC	0.542000													11	62					0	0	6.40141e-05	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639510	146639510	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:146639510G>A	ENST00000254101.3	-	3	297	c.159C>T	c.(157-159)ctC>ctT	p.L53L	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	53					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TGTCCCCAGGGAGCTGTAAGA	0.512000													35	134					0	0	0.000692331	0	0
ZP4	57829	broad.mit.edu	37	1	238050772	238050772	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:238050772A>C	ENST00000366570.4	-	5	801	c.643T>G	c.(643-645)Ttg>Gtg	p.L215V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	215	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTAAGGGCCAAGCGCACAGAA	0.507000													15	123					0	0	0.000308642	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99439605	99439605	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:99439605G>A	ENST00000397899.2	-	7	1462	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P		NM_207362.2	NP_997245.2			KIAA1211-like																		ACGGGCCTGCGGGGGGCGCCT	0.751000													4	18					0	0	0.000602214	0	0
MC5R	4161	broad.mit.edu	37	18	13826735	13826735	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:13826735G>A	ENST00000324750.3	+	1	1193	c.971G>A	c.(970-972)aGg>aAg	p.R324K		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	324					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTTCCCAGAAGGGATTAAGCA	0.522000													15	95					0	0	0.00074312	0	0
JADE2	23338	broad.mit.edu	37	5	133895560	133895560	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:133895560C>T	ENST00000395003.1	+	5	531	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	PHF15_ENST00000402835.1_Missense_Mutation_p.P118S|PHF15_ENST00000282605.4_Missense_Mutation_p.P118S|PHF15_ENST00000361895.2_Missense_Mutation_p.P118S	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		118					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGCATCCCCGAGCAGCAC	0.617000													9	30					0	0	0.000274275	0	0
ANLN	54443	broad.mit.edu	37	7	36447420	36447420	+	Silent	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:36447420T>C	ENST00000265748.2	+	5	1172	c.951T>C	c.(949-951)ctT>ctC	p.L317L	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Silent_p.L317L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	317	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTGAGCTACTTCCAAAAACTC	0.403000													7	33					0	0	8.12818e-05	0	0
DST	667	broad.mit.edu	37	6	56422233	56422233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:56422233G>A	ENST00000370754.5	-	59	14430	c.14431C>T	c.(14431-14433)Cag>Tag	p.Q4811*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q2219*|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.Q4631*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2545*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4633*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2545*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4307*			Q03001	DYST_HUMAN	dystonin	4631					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTACAGTCTGGAACTGGGTT	0.373000													6	26					0	0	3.59834e-05	0	0
CNIH3	149111	broad.mit.edu	37	1	224868708	224868708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:224868708C>T	ENST00000272133.3	+	2	1012	c.130C>T	c.(130-132)Cag>Tag	p.Q44*		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	44					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCCCATAGACCAGTGCAATCC	0.498000													21	111					0	0	0.000279167	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651763	128651763	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:128651763G>A	ENST00000281154.4	+	1	231	c.63G>A	c.(61-63)ggG>ggA	p.G21G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	21					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CATCCTTCGGGAAGGACCTTC	0.592000													9	79					0	0	0.000673444	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206074	74206074	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:74206074G>A	ENST00000286523.5	-	2	1420	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P213L	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GGGTTGCAGGGGCAGTGACTG	0.647000													11	90					0	0	6.40141e-05	0	0
ZNF341	84905	broad.mit.edu	37	20	32379277	32379277	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:32379277C>T	ENST00000375200.1	+	15	2884	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L	RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.P833L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCCGAGGGCCCATGTGCCATG	0.667000													15	21					0	0	0.00074312	0	0
F10	2159	broad.mit.edu	37	13	113803660	113803660	+	Silent	SNP	C	C	T	rs139031355		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:113803660C>T	ENST00000375559.3	+	8	1334	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	432	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTACTTCGTGACAGGCA	0.622000													11	80					0	0	0.000673444	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099663	142099663	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:142099663C>T	ENST00000390359.3	-	0	177																											GATACATGACCCGAAATTGGA	0.507000													20	41					0	0	0.000175454	0	0
GPAA1	8733	broad.mit.edu	37	8	145138651	145138651	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:145138651G>A	ENST00000355091.4	+	4	522	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.R74Q	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	134					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCATCCTGCGGGCCCCGCGT	0.652000													6	36					0	0	0.000274275	0	0
EIF4H	7458	broad.mit.edu	37	7	73604036	73604036	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73604036C>T	ENST00000265753.8	+	3	420	c.281C>T	c.(280-282)tCc>tTc	p.S94F	EIF4H_ENST00000353999.6_Missense_Mutation_p.S94F|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	94	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GAAGTGGATTCCCTTAAGGAA	0.398000													11	60					0	0	0.000673444	0	0
ADAM29	11086	broad.mit.edu	37	4	175896987	175896987	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:175896987G>A	ENST00000359240.3	+	5	981	c.311G>A	c.(310-312)gGt>gAt	p.G104D	ADAM29_ENST00000404450.4_Missense_Mutation_p.G104D|ADAM29_ENST00000514159.1_Missense_Mutation_p.G104D|ADAM29_ENST00000445694.1_Missense_Mutation_p.G104D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	104					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTATCATGGTTATGTGGAA	0.438000													4	12					0	0	0.000602214	0	0
IRX5	10265	broad.mit.edu	37	16	54967726	54967726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:54967726C>T	ENST00000394636.4	+	3	1730	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	IRX5_ENST00000558597.1_Nonsense_Mutation_p.Q399*|IRX5_ENST00000320990.5_Nonsense_Mutation_p.Q464*|IRX5_ENST00000560154.1_Nonsense_Mutation_p.Q245*			P78411	IRX5_HUMAN	iroquois homeobox 5	465					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GAGCCAGTCTCAGCTAGACCT	0.488000													35	82					0	0	0.000374591	0	0
ZNF236	7776	broad.mit.edu	37	18	74667977	74667977	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:74667977C>A	ENST00000253159.8	+	28	5143	c.4945C>A	c.(4945-4947)Cag>Aag	p.Q1649K	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q1651K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1649					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCGGGCAACCAGCCAGAGAA	0.607000													5	23					8.12818e-05	0.001306	8.12818e-05	1	0
CBX2	84733	broad.mit.edu	37	17	77755738	77755738	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:77755738G>A	ENST00000269399.5	+	4	468	c.426G>A	c.(424-426)caG>caA	p.Q142Q	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	0					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGGAAAACAGGAGCCCCCTT	0.652000													15	147					0	0	0.000219431	0	0
DUOX2	50506	broad.mit.edu	37	15	45387154	45387154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:45387154C>T	ENST00000389039.6	-	32	4760	c.4375G>A	c.(4375-4377)Gac>Aac	p.D1459N	DUOX2_ENST00000603300.1_Missense_Mutation_p.D1459N			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1459					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCTGAGGTCGAACTTCTCA	0.592000													8	70					0	0	0.000274275	0	0
PDE1C	5137	broad.mit.edu	37	7	31890260	31890260	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:31890260C>T	ENST00000396184.3	-	9	1050	c.846G>A	c.(844-846)caG>caA	p.Q282Q	PDE1C_ENST00000321453.7_Silent_p.Q282Q|PDE1C_ENST00000396191.1_Silent_p.Q282Q|PDE1C_ENST00000396193.1_Silent_p.Q342Q|PDE1C_ENST00000396182.2_Silent_p.Q282Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	282	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCACCGAGTCTGAATGTGGA	0.453000													7	25					0	0	0.000274275	0	0
PNMA3	29944	broad.mit.edu	37	X	152226196	152226196	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:152226196G>A	ENST00000447306.1	+	2	1120	c.784G>A	c.(784-786)Gag>Aag	p.E262K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E262K|PNMA3_ENST00000370264.4_Missense_Mutation_p.E262K	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	262					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggcaggagagaaagtatc	0.493000													32	93					0	0	0.000339439	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65226365	65226365	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:65226365C>T	ENST00000380230.3	+	9	827	c.798C>T	c.(796-798)gcC>gcT	p.A266A	ANKDD1A_ENST00000395720.1_Silent_p.A266A|ANKDD1A_ENST00000357698.3_Silent_p.A266A|ANKDD1A_ENST00000395723.1_Silent_p.A175A	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	266					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACTATGCAGCCCTCAGTGGCT	0.527000													20	109					0	0	0.000295444	0	0
MC5R	4161	broad.mit.edu	37	18	13826736	13826736	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:13826736G>A	ENST00000324750.3	+	1	1194	c.972G>A	c.(970-972)agG>agA	p.R324R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	324					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCCCAGAAGGGATTAAGCAC	0.522000													15	93					0	0	0.00074312	0	0
KLC4	89953	broad.mit.edu	37	6	43030861	43030861	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:43030861G>A	ENST00000394056.2	+	4	960	c.465G>A	c.(463-465)caG>caA	p.Q155Q	KLC4_ENST00000394058.1_Silent_p.Q155Q|KLC4_ENST00000458460.2_Silent_p.Q155Q|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000347162.5_Silent_p.Q155Q|KLC4_ENST00000259708.3_Silent_p.Q173Q|KLC4_ENST00000479388.1_Silent_p.Q155Q			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	155						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCTGCGGCAGTATGATGAGG	0.617000													5	38					0	0	8.12818e-05	0	0
CR1L	1379	broad.mit.edu	37	1	207851566	207851566	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:207851566G>A	ENST00000508064.2	+	3	361	c.301G>A	c.(301-303)Gat>Aat	p.D101N	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	101	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAATCCTCCAGATCCTGTGAA	0.383000													6	51					0	0	0.000157383	0	0
FCRL2	79368	broad.mit.edu	37	1	157737316	157737316	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:157737316G>A	ENST00000469986.1	-	1	248	c.108C>T	c.(106-108)gcC>gcT	p.A36A	FCRL2_ENST00000361516.3_Intron|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACACAGAGGGGCTATCAGAA	0.557000													33	26					0	0	0.000409698	0	0
MYH3	4621	broad.mit.edu	37	17	10551931	10551931	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10551931G>A	ENST00000583535.1	-	8	765	c.678C>T	c.(676-678)ccC>ccT	p.P226P	MYH3_ENST00000226209.7_Silent_p.P226P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	226	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTCCAGCAGGGGATTGGCAC	0.443000													19	69					0	0	0.000375601	0	0
POTEF	728378	broad.mit.edu	37	2	130832707	130832707	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:130832707C>T	ENST00000357462.5	-	15	2431	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	POTEF_ENST00000409914.2_Missense_Mutation_p.D780N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	780	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCATGTCATCCCAGTTGGTG	0.572000													34	87					0	0	0.000270559	0	0
ZNF610	162963	broad.mit.edu	37	19	52857508	52857508	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:52857508C>T	ENST00000403906.3	+	5	651	c.195C>T	c.(193-195)atC>atT	p.I65I	ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000327920.8_Silent_p.I65I|ZNF610_ENST00000321287.8_Silent_p.I65I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TAACAGGAATCTGTCTTCCTG	0.388000													6	59					0	0	8.12818e-05	0	0
ZNF560	147741	broad.mit.edu	37	19	9578369	9578369	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9578369G>A	ENST00000301480.4	-	10	1467	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTCAATAAGGCCTGCAGATG	0.433000													5	9					0	0	0.000602214	0	0
POU6F1	5463	broad.mit.edu	37	12	51586222	51586222	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:51586222G>A	ENST00000389243.4	-	9	1221	c.282C>T	c.(280-282)ccC>ccT	p.P94P	POU6F1_ENST00000550824.1_Silent_p.P94P|POU6F1_ENST00000333640.10_Silent_p.P94P			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	94	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CAGCAGGCTGGGGCACGGTTG	0.607000													15	105					0	0	0.000422831	0	0
GPAA1	8733	broad.mit.edu	37	8	145138652	145138652	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:145138652G>A	ENST00000355091.4	+	4	523	c.402G>A	c.(400-402)cgG>cgA	p.R134R	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Silent_p.R74R	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	134					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATCCTGCGGGCCCCGCGTG	0.657000													6	37					0	0	0.000274275	0	0
WDR86	349136	broad.mit.edu	37	7	151082316	151082316	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:151082316G>A	ENST00000469830.2	-	4	825	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	WDR86_ENST00000463000.1_Intron|WDR86_ENST00000477459.1_Intron|WDR86_ENST00000334493.6_Intron			Q86TI4	WDR86_HUMAN	WD repeat domain 86	262										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGCGAGGAGGAGCAGG	0.642000													10	47					0	0	0.000151284	0	0
AP1G2	8906	broad.mit.edu	37	14	24036410	24036410	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:24036410G>A	ENST00000308724.5	-	1	869	c.114C>T	c.(112-114)tcC>tcT	p.S38S	AP1G2_ENST00000397120.3_Silent_p.S38S|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	38					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGTCGCGGAAGGAGGCCCGGA	0.632000											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	0.000442599	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009430	100009430	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:100009430C>T	ENST00000394144.4	+	5	492	c.485C>T	c.(484-486)tCc>tTc	p.S162F	TBC1D23_ENST00000344949.5_Missense_Mutation_p.S162F|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.S25F	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGGGATTGTTCCCAGAAAGGG	0.393000													9	43					0	0	0.000673444	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163947	12163947	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:12163947C>T	ENST00000379388.2	+	9	7742	c.7410C>T	c.(7408-7410)ggC>ggT	p.G2470G	HIVEP1_ENST00000541134.1_Silent_p.G335G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2470					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCTATCGGCCAAATCCGCG	0.502000													7	41					0	0	8.12818e-05	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460440	160460440	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:160460440G>A	ENST00000368059.3	-	4	751	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	SLAMF6_ENST00000368055.1_Silent_p.L117L|SLAMF6_ENST00000368057.3_Silent_p.L228L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	228						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACCATAAACAGAATCATTTTG	0.368000													5	34					0	0	3.59834e-05	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													5	103					0	0	0.000602214	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984761	41984761	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:41984761C>T	ENST00000333141.5	+	1	1049	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	318										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GTCCGCCTATCTGCCCCTGCA	0.552000													16	64					0	0	0.000566183	0	0
TAF7	6879	broad.mit.edu	37	5	140699252	140699252	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140699252C>T	ENST00000313368.5	-	1	1078	c.360G>A	c.(358-360)aaG>aaA	p.K120K		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	120					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCTTTTTCTTGCTTGCTT	0.438000													14	97					0	0	0.000151284	0	0
ATR	545	broad.mit.edu	37	3	142172027	142172027	+	Silent	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:142172027T>C	ENST00000350721.4	-	46	7825	c.7704A>G	c.(7702-7704)ccA>ccG	p.P2568P	ATR_ENST00000383101.3_Silent_p.P2504P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2568					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCCTTTCACTGGTTTACTCC	0.368000								Other conserved DNA damage response genes					27	51					0	0	0.000409698	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010224	73010224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73010224C>T	ENST00000313375.3	-	14	2181	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	MLXIPL_ENST00000429400.2_Missense_Mutation_p.E693K|MLXIPL_ENST00000414749.2_Missense_Mutation_p.E710K|MLXIPL_ENST00000395189.1_Missense_Mutation_p.E619K|MLXIPL_ENST00000434326.1_Missense_Mutation_p.E618K|MLXIPL_ENST00000354613.1_Missense_Mutation_p.E691K	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	712	Leucine-zipper.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCCTCCTCCTGCAAGCCC	0.627000													5	21					0	0	0.000602214	0	0
PARP10	84875	broad.mit.edu	37	8	145057685	145057685	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:145057685G>A	ENST00000313028.7	-	8	2166	c.2072C>T	c.(2071-2073)cCc>cTc	p.P691L	PARP10_ENST00000525773.1_Missense_Mutation_p.P703L|PARP10_ENST00000524918.1_Missense_Mutation_p.P682L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	691	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAACGGGGGCTGCTCCAG	0.672000													4	17					0	0	3.59834e-05	0	0
NOS1	4842	broad.mit.edu	37	12	117768790	117768790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:117768790C>T	ENST00000317775.6	-	2	770	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NOS1_ENST00000344089.3_Missense_Mutation_p.G29R|NOS1_ENST00000338101.4_Missense_Mutation_p.G29R	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	29	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAGAAATCCCAGGCCCCCA	0.562000													8	63					0	0	0.000157383	0	0
NCAN	1463	broad.mit.edu	37	19	19360700	19360700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:19360700G>A	ENST00000252575.5	+	15	3989	c.3946G>A	c.(3946-3948)Gac>Aac	p.D1316N	NCAN_ENST00000538881.1_Missense_Mutation_p.D767N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1316					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGGGAGAAGGACGAAGGGAA	0.537000													5	12					0	0	0.000602214	0	0
CCDC180	100499483	broad.mit.edu	37	9	100122382	100122382	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:100122382C>T	ENST00000375202.2	+	40	4966	c.3615_splice	c.e40+1	p.T1205_splice	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Splice_Site_p.T1205_splice|CCDC180_ENST00000357054.1_Splice_Site_p.T1176_splice|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		CTGGTCTTTACCGTAAGGAAT	0.547000													18	93					0	0	0.000175454	0	0
T	6862	broad.mit.edu	37	6	166578292	166578292	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:166578292C>T	ENST00000296946.2	-	5	1132	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	T_ENST00000366871.3_Missense_Mutation_p.E222K	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	222					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TCTCACCTTTCCTTTGCATCA	0.318000									Chordoma, Familial Clustering of				11	85					0	0	0.00010058	0	0
DNMBP	23268	broad.mit.edu	37	10	101646230	101646230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:101646230C>T	ENST00000342239.3	-	13	3608	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Missense_Mutation_p.E1149K|DNMBP_ENST00000540316.1_Missense_Mutation_p.E85K|DNMBP_ENST00000543621.1_Missense_Mutation_p.E395K			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1149	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GACTGCAGCTCCTCCAGGGTC	0.547000													11	76					0	0	6.40141e-05	0	0
WDR93	56964	broad.mit.edu	37	15	90276242	90276242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:90276242C>T	ENST00000268130.7	+	13	1437	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	WDR93_ENST00000444934.2_Missense_Mutation_p.P163S|WDR93_ENST00000560294.1_Intron	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	446					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTAGGATTCCCTCTTGGGGT	0.512000													18	160					0	0	0.000958276	0	0
CD1E	913	broad.mit.edu	37	1	158325810	158325810	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:158325810G>A	ENST00000444681.2	+	3	815	c.522G>A	c.(520-522)ctG>ctA	p.L174L	CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368156.1_Silent_p.L183L|CD1E_ENST00000368167.3_Silent_p.L273L|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Silent_p.L183L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Silent_p.L273L|CD1E_ENST00000434258.1_Silent_p.L271L|CD1E_ENST00000368166.3_Silent_p.L84L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Silent_p.L84L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	273					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGCAACCCTGGATGTGGCGG	0.602000													7	129					0	0	0.000274275	0	0
RREB1	6239	broad.mit.edu	37	6	7231149	7231149	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:7231149C>T	ENST00000379938.2	+	10	3354	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	RREB1_ENST00000334984.6_Silent_p.I939I|RREB1_ENST00000349384.6_Silent_p.I939I|RREB1_ENST00000379933.3_Silent_p.I939I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	939					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACCTGTCCATCCCCAAGAACT	0.602000													5	28					0	0	0.000602214	0	0
AFF2	2334	broad.mit.edu	37	X	148039955	148039955	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:148039955C>A	ENST00000370460.2	+	12	3136	c.2657C>A	c.(2656-2658)cCa>cAa	p.P886Q	AFF2_ENST00000286437.5_Missense_Mutation_p.P527Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P853Q|AFF2_ENST00000342251.3_Missense_Mutation_p.P853Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	886					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCATCTCACCAGCCCCACCC	0.517000													10	44					1.33987e-11	2.17994e-10	0.000673444	1	0
SLFN13	146857	broad.mit.edu	37	17	33772553	33772553	+	Silent	SNP	G	G	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:33772553G>C	ENST00000285013.6	-	3	422	c.147C>G	c.(145-147)gcC>gcG	p.A49A	SLFN13_ENST00000542635.1_Silent_p.A49A|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.A49A|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Silent_p.A49A	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	49						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCACACGCGGCCCGTATAA	0.483000													19	90					0	0	0.000132079	0	0
CSHL1	1444	broad.mit.edu	37	17	61988059	61988059	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:61988059C>T	ENST00000392824.4	-	2	297	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCCATTACTTCCCCAGTGGGG	0.542000													21	179					0	0	0.000295444	0	0
CLIC1	1192	broad.mit.edu	37	6	31698736	31698736	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:31698736G>A	ENST00000375780.2	-	7	1181	c.609C>T	c.(607-609)ttC>ttT	p.F203F	CLIC1_ENST00000395892.1_Silent_p.F203F|CLIC1_ENST00000375779.2_Silent_p.F203F|CLIC1_ENST00000375784.3_Silent_p.F203F			O00299	CLIC1_HUMAN	chloride intracellular channel 1	203	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCACTCCCCGGAAGGCCTCGG	0.577000													63	328					0	0	0.000781405	0	0
FCRL6	343413	broad.mit.edu	37	1	159778212	159778212	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:159778212G>A	ENST00000321935.6	+	4	404	c.318G>A	c.(316-318)gaG>gaA	p.E106E	FCRL6_ENST00000339348.5_Silent_p.E99E|FCRL6_ENST00000368106.3_Silent_p.E99E|FCRL6_ENST00000392235.3_Silent_p.E99E			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	99						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAACTTCAGAGACTGCCATGG	0.542000													12	59					0	0	0.00010058	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064784	63064784	+	Silent	SNP	A	A	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:63064784A>C	ENST00000544661.1	+	4	479	c.51A>C	c.(49-51)cgA>cgC	p.R17R	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.R172R			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	172						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTTGGGCGAAGATTTATTC	0.408000													10	23					0	0	0.000151284	0	0
CCT6A	908	broad.mit.edu	37	7	56128511	56128511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:56128511C>T	ENST00000275603.4	+	11	1444	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	CCT6A_ENST00000540286.1_Missense_Mutation_p.P378S|CCT6A_ENST00000335503.3_Missense_Mutation_p.P364S|CCT6A_ENST00000462133.1_3'UTR	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	409					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGTGTGGTTCCAGGTGCTGG	0.438000													22	55					0	0	0.000720815	0	0
APC2	10297	broad.mit.edu	37	19	1468588	1468588	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:1468588G>A	ENST00000535453.1	+	14	7001	c.5288G>A	c.(5287-5289)gGg>gAg	p.G1763E	APC2_ENST00000238483.4_Missense_Mutation_p.G1489E|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1763E			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1763					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCAGCGGGAGCCCCCGT	0.672000													3	6					0	0	0.00024832	0	0
NOX5	79400	broad.mit.edu	37	15	69335039	69335039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:69335039G>A	ENST00000260364.5	+	11	1788	c.1487G>A	c.(1486-1488)tGg>tAg	p.W496*	NOX5_ENST00000448182.3_Nonsense_Mutation_p.W468*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Nonsense_Mutation_p.W486*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.W514*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.W479*			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	514	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAAGGCCAGTGGACAAACAGG	0.547000													11	32					0	0	6.40141e-05	0	0
CXorf21	80231	broad.mit.edu	37	X	30577915	30577915	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:30577915G>A	ENST00000378962.3	-	3	880	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	186										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCTCCAATAGGATGAGTACC	0.443000													4	26					0	0	0.00024832	0	0
CPA1	1357	broad.mit.edu	37	7	130027801	130027801	+	Silent	SNP	G	G	C	rs113061008	byFrequency	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:130027801G>C	ENST00000011292.3	+	10	1359	c.1209G>C	c.(1207-1209)acG>acC	p.T403T	CPA1_ENST00000484324.1_Silent_p.T315T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	403					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCAAGGAGACGTGGCTGGCGC	0.607000													33	166					0	0	0.000491102	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612252	8612252	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:8612252C>T	ENST00000382073.3	+	3	367	c.181C>T	c.(181-183)Cat>Tat	p.H61Y		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	61					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACACTCATATCATTCAAGTCT	0.373000													21	54					0	0	0.000375601	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994178	1994178	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:1994178C>T	ENST00000382722.5	-	10	1495	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R314K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R378K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R378K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.R294K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R314K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	378	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAGGCTTCTCTCAGGGCTTG	0.597000													20	127					0	0	0.00047179	0	0
SPA17	53340	broad.mit.edu	37	11	124545172	124545172	+	Silent	SNP	A	A	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:124545172A>G	ENST00000532692.1	+	1	1433	c.12A>G	c.(10-12)ccA>ccG	p.P4P	SPA17_ENST00000227135.2_Silent_p.P4P|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	4					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGTCGATTCCATTCTCCAACA	0.398000													39	65					0	0	0.000509022	0	0
VWA2	340706	broad.mit.edu	37	10	116045915	116045915	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:116045915C>T	ENST00000603594.1	+	11	1536	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	VWA2_ENST00000392982.3_Silent_p.D405D	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	405	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGCCTGACCTGGTCTGGA	0.687000													20	72					0	0	0.000229342	0	0
GHSR	2693	broad.mit.edu	37	3	172165570	172165570	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:172165570C>T	ENST00000241256.2	-	1	676	c.634G>A	c.(634-636)Gtc>Atc	p.V212I	GHSR_ENST00000427970.1_Missense_Mutation_p.V212I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	212					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CACACCATGACCGTGAGCAGT	0.622000													9	27					0	0	0.000673444	0	0
MOV10	4343	broad.mit.edu	37	1	113238833	113238833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:113238833G>A	ENST00000369644.1	+	13	2704	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	MOV10_ENST00000357443.2_Missense_Mutation_p.E615K|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.E615K|MOV10_ENST00000369645.1_Missense_Mutation_p.E615K|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	615					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAAGCTGCAGGAATACCGGGT	0.537000													33	33					0	0	0.000319135	0	0
USH2A	7399	broad.mit.edu	37	1	215956161	215956161	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:215956161C>G	ENST00000366943.2	-	53	10890	c.10504G>C	c.(10504-10506)Gtg>Ctg	p.V3502L	USH2A_ENST00000307340.3_Missense_Mutation_p.V3502L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3502	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGGACTCACTCCTTGAGGC	0.418000										HNSCC(13;0.011)			3	19					0	0	6.4e-05	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050328	42050328	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:42050328C>T	ENST00000372584.1	-	3	1155	c.141G>A	c.(139-141)gaG>gaA	p.E47E	HIVEP3_ENST00000429157.2_Silent_p.E47E|HIVEP3_ENST00000247584.5_Silent_p.E47E|HIVEP3_ENST00000372583.1_Silent_p.E47E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	47					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCGGGGCTCTCTTGGGTGG	0.632000													46	139					0	0	0.000781405	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500269	48500269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:48500269C>T	ENST00000396577.3	+	2	568	c.353C>T	c.(352-354)aCc>aTc	p.T118I	SLC12A1_ENST00000561031.1_Missense_Mutation_p.T118I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T118I|SLC12A1_ENST00000330289.6_Missense_Mutation_p.T118I|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T118I	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	118					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATCGTAACACCGGCAGCATC	0.488000													5	43					0	0	3.59834e-05	0	0
PDK2	5164	broad.mit.edu	37	17	48185985	48185985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:48185985C>T	ENST00000503176.1	+	9	1032	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PDK2_ENST00000007708.3_Nonsense_Mutation_p.R227*	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	291	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.R291R(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GATGAGTGACCGAGGTGGGGG	0.592000									Autosomal Dominant Polycystic Kidney Disease				31	15					0	0	0.000409698	0	0
THBS3	7059	broad.mit.edu	37	1	155169793	155169793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:155169793G>A	ENST00000368378.3	-	15	1840	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.P487L|THBS3_ENST00000428962.2_3'UTR|THBS3_ENST00000541990.1_Missense_Mutation_p.P136L|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.P4L|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	607					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACCTGGGTAGGATTGCTCAT	0.552000													13	115					0	0	0.000219431	0	0
AMY2B	280	broad.mit.edu	37	1	104115776	104115776	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:104115776C>T	ENST00000361355.4	+	5	1023	c.407C>T	c.(406-408)cCt>cTt	p.P136L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	136					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TACTTCAACCCTGGAAGTAGG	0.408000													45	108					0	0	0.000781405	0	0
GFRA3	2676	broad.mit.edu	37	5	137600194	137600194	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:137600194G>A	ENST00000274721.3	-	2	381	c.135C>T	c.(133-135)ctC>ctT	p.L45L	GFRA3_ENST00000378362.3_Silent_p.L45L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	45					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTGGCCTGGAGACAGCTGT	0.557000													20	26					0	0	0.00047179	0	0
CCDC135	84229	broad.mit.edu	37	16	57764843	57764843	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:57764843G>A	ENST00000360716.3	+	18	2613	c.2391_splice	c.e18-1	p.E798_splice	CCDC135_ENST00000394337.4_Splice_Site_p.E798_splice|CCDC135_ENST00000336825.8_Splice_Site_p.E733_splice			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	798						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATGACCACAGGAGACCCAGGA	0.572000													4	47					0	0	0.000602214	0	0
FMO2	2327	broad.mit.edu	37	1	171154965	171154965	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:171154965G>A	ENST00000441535.1	+	2	230	c.113G>A	c.(112-114)gGa>gAa	p.G38E	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Missense_Mutation_p.G38E|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	38					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGATATTGGAGGAGTGTGG	0.453000													5	35					0	0	3.59834e-05	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605107	37605107	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:37605107G>A	ENST00000399151.3	+	15	2441	c.2356G>A	c.(2356-2358)Ggt>Agt	p.G786S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	786					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCAGGAGCCGGTGATTCCAG	0.532000													20	106					0	0	0.000295444	0	0
KCNH1	3756	broad.mit.edu	37	1	210857430	210857430	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:210857430C>T	ENST00000367007.4	-	11	2251	c.2082G>A	c.(2080-2082)atG>atA	p.M694I	KCNH1_ENST00000271751.4_Missense_Mutation_p.M721I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	721	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTTCGTTTCATGCGTTCTT	0.562000													20	91					0	0	0.000175454	0	0
BPIFC	254240	broad.mit.edu	37	22	32833812	32833812	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:32833812G>A	ENST00000397452.1	-	8	792	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	BPIFC_ENST00000300399.3_Silent_p.L228L|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Silent_p.L42L			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	228						extracellular region	lipopolysaccharide binding|phospholipid binding										TAATCCAGCAGAGTGTAGTTG	0.343000													11	19					0	0	0.000673444	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461754	85461754	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:85461754G>A	ENST00000394573.1	+	10	997		c.e10-1		SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537703.1_Splice_Site	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTCCCGGCAGGTTCTGCCCA	0.592000													23	148					0	0	0.000720815	0	0
HDAC6	10013	broad.mit.edu	37	X	48665055	48665055	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:48665055C>T	ENST00000334136.5	+	8	752	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	HDAC6_ENST00000376619.2_Missense_Mutation_p.L192F|HDAC6_ENST00000413163.2_Missense_Mutation_p.L137F|HDAC6_ENST00000444343.2_Missense_Mutation_p.L206F|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	192	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGCTCTGTCCTCAGGCTGGT	0.532000													7	24					0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181741255	181741255	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:181741255A>C	ENST00000526775.1	+	36	5135	c.4970A>C	c.(4969-4971)aAg>aCg	p.K1657T	CACNA1E_ENST00000358338.5_Missense_Mutation_p.K1608T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K1657T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K1676T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.K1283T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.K1676T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K1627T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1676					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTGGGGAGAAGGGCTGTGAG	0.567000													12	80					0	0	0.000151284	0	0
BPIFA1	51297	broad.mit.edu	37	20	31826004	31826004	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:31826004C>T	ENST00000354297.4	+	3	375	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	BPIFA1_ENST00000375413.4_Silent_p.L102L|BPIFA1_ENST00000375422.2_Silent_p.L102L	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	102					innate immune response	extracellular region	lipid binding										GATTCCTGGCCTGAACAACAT	0.542000													12	79					0	0	0.000422831	0	0
SLC4A10	57282	broad.mit.edu	37	2	162834230	162834230	+	Splice_Site	SNP	A	A	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:162834230A>G	ENST00000375514.5	+	26	3574		c.e26-1		SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Splice_Site	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTTGTCATAAGCTCCCCTTC	0.333000													11	63					0	0	0.00010058	0	0
SPTA1	6708	broad.mit.edu	37	1	158615155	158615155	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:158615155C>T	ENST00000368148.3	-	29	4197	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	SPTA1_ENST00000368147.3_Silent_p.E1339E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1339					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E1339D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGCCTCTGCCTCCATGTCAG	0.483000													6	22					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179472560	179472560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:179472560C>A	ENST00000589042.1	-	276	53178	c.52954G>T	c.(52954-52956)Gaa>Taa	p.E17652*	TTN_ENST00000460472.2_Nonsense_Mutation_p.E8587*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E15084*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E8779*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E16011*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E8712*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16011	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCGGTCCTTCCCCTGCGGCA	0.458000													21	25					1.17739e-12	1.92251e-11	0.000878237	1	0
OSMR	9180	broad.mit.edu	37	5	38924659	38924659	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:38924659G>A	ENST00000274276.3	+	14	2408	c.2006G>A	c.(2005-2007)aGg>aAg	p.R669K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	669	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCCAAGGCGAGGCAGTGCCAC	0.368000													10	40					0	0	0.000673444	0	0
LONRF2	164832	broad.mit.edu	37	2	100903504	100903504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:100903504C>T	ENST00000393437.3	-	11	2581	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E405K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	648	Lon.			E -> Q (in Ref. 1; AAY84832).	proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCGGCAAGTTCTTCATACTCT	0.493000													5	24					0	0	3.59834e-05	0	0
ARID1A	8289	broad.mit.edu	37	1	27088683	27088683	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:27088683C>T	ENST00000324856.7	+	7	2663	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	ARID1A_ENST00000374152.2_Silent_p.S381S|ARID1A_ENST00000457599.2_Silent_p.S764S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	764					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTACAGTTCCCCCCAGCCCG	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								34	79					0	0	0.000191422	0	0
KLHL1	57626	broad.mit.edu	37	13	70371056	70371056	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:70371056G>A	ENST00000377844.4	-	7	2212	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	KLHL1_ENST00000545028.1_Silent_p.L292L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	485					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L485L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGGATCCACAGATTTGTTCTC	0.388000													10	58					0	0	0.00010058	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172358	47172358	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:47172358G>A	ENST00000447411.1	-	10	1125	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	SLC38A4_ENST00000266579.4_Missense_Mutation_p.H307Y	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	307					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCACTGTCATGAAGAGAGCCC	0.478000													4	7					0	0	3.59834e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	70989289	70989289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:70989289C>T	ENST00000393567.2	-	40	6455	c.6305G>A	c.(6304-6306)gGa>gAa	p.G2102E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCCTCTCCTTCCTTCAC	0.567000													8	21					0	0	0.000274275	0	0
GBP6	163351	broad.mit.edu	37	1	89844124	89844124	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:89844124C>T	ENST00000370456.4	+	5	670	c.577C>T	c.(577-579)Cct>Tct	p.P193S	GBP6_ENST00000535065.1_Missense_Mutation_p.P63S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	193							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GAACGGTCACCCTATCACAGA	0.488000													4	29					0	0	0.000602214	0	0
RELN	5649	broad.mit.edu	37	7	103206798	103206798	+	Silent	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:103206798T>C	ENST00000424685.2	-	33	4968	c.4809A>G	c.(4807-4809)caA>caG	p.Q1603Q	RELN_ENST00000343529.5_Silent_p.Q1603Q|RELN_ENST00000428762.1_Silent_p.Q1603Q			P78509	RELN_HUMAN	reelin	1603					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAATCCAGTTTGAGAGCTGT	0.403000													8	14					0	0	0.000157383	0	0
CPA1	1357	broad.mit.edu	37	7	130027771	130027771	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:130027771C>T	ENST00000011292.3	+	10	1329	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	CPA1_ENST00000484324.1_Silent_p.A305A	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	393					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGCTGCCAGCCTCCCAGATCA	0.587000													51	155					0	0	0.000781405	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356406	37356406	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:37356406G>A	ENST00000217420.1	+	2	965	c.702G>A	c.(700-702)ccG>ccA	p.P234P		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	234					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACAGCTTCCCGGGGCTGCCCG	0.597000													8	33					0	0	0.000442599	0	0
KIF4B	285643	broad.mit.edu	37	5	154394116	154394116	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:154394116C>T	ENST00000435029.4	+	1	857	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	233	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGCAGCTTTCGCTCCAAGCT	0.453000													14	67					0	0	0.000308642	0	0
KHSRP	8570	broad.mit.edu	37	19	6418740	6418740	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:6418740C>T	ENST00000398148.3	-	8	845	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	251	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTCCCCGCCCTTGCCAATGA	0.672000													8	62					0	0	0.000673444	0	0
FAM47A	158724	broad.mit.edu	37	X	34148193	34148193	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:34148193C>T	ENST00000346193.3	-	1	2254	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	735										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCAATTGGTCCATAAAGATCG	0.428000													23	77					0	0	0.000586117	0	0
NYAP1	222950	broad.mit.edu	37	7	100087049	100087049	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:100087049G>A	ENST00000423930.1	+	4	1864	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	NYAP1_ENST00000300179.2_Missense_Mutation_p.A569T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A512T			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	569																	GAGCCTCAAGGCTGGGGGGGT	0.647000													24	28					0	0	0.000720815	0	0
DNAH7	56171	broad.mit.edu	37	2	196729046	196729046	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:196729046C>T	ENST00000312428.6	-	41	7433	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2445	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGTTTTATCCCGCTGGCGA	0.453000													11	24					0	0	0.000151284	0	0
GPR119	139760	broad.mit.edu	37	X	129519283	129519283	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:129519283G>A	ENST00000276218.2	-	1	228	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	47						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GCCACAGCCAGATTCAAGGTG	0.552000													26	63					0	0	0.00047179	0	0
ZNF530	348327	broad.mit.edu	37	19	58117970	58117970	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:58117970C>T	ENST00000332854.6	+	3	1297	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGAAAATCCTTTAGCCATA	0.448000													9	59					0	0	0.000673444	0	0
TYMS	7298	broad.mit.edu	37	18	672885	672885	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:672885C>T	ENST00000323274.10	+	7	969	c.830C>T	c.(829-831)cCa>cTa	p.P277L	TYMS_ENST00000323224.7_Missense_Mutation_p.P243L|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.P194L|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	277					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	AGACCTTTCCCAAAGCTCAGG	0.388000													10	86					0	0	6.40141e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	19					0	0	0.000422831	0	0
IL20RB	53833	broad.mit.edu	37	3	136676961	136676961	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:136676961G>A	ENST00000329582.4	+	1	255	c.6G>A	c.(4-6)caG>caA	p.Q2Q	IL20RB_ENST00000309741.5_5'UTR|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	2						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACCAAATGCAGACTTTCACAA	0.368000													10	26					0	0	6.40141e-05	0	0
DPP3	10072	broad.mit.edu	37	11	66249829	66249829	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:66249829C>T	ENST00000532677.1	+	2	616	c.215C>T	c.(214-216)tCc>tTc	p.S72F	DPP3_ENST00000541961.1_Missense_Mutation_p.S53F|DPP3_ENST00000530165.1_Missense_Mutation_p.S53F|DPP3_ENST00000360510.2_Missense_Mutation_p.S53F|DPP3_ENST00000531863.1_Missense_Mutation_p.S73F|DPP3_ENST00000453114.1_Missense_Mutation_p.S53F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	53					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCAGACCTCCCCTGAGGCC	0.667000													17	38					0	0	0.00074312	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405688	106405688	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:106405688C>T	ENST00000390593.2	-	0	337																											TTGGATGTGTCTGGGTTGATG	0.498000													25	82					0	0	0.00047179	0	0
HES1	3280	broad.mit.edu	37	3	193855629	193855629	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:193855629C>T	ENST00000232424.3	+	4	686	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	150					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCCAGATCAATGCCATGA	0.716000													10	60					0	0	6.40141e-05	0	0
ABCA5	23461	broad.mit.edu	37	17	67302982	67302982	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:67302982G>A	ENST00000392676.3	-	6	736	c.672C>T	c.(670-672)taC>taT	p.Y224Y	ABCA5_ENST00000588877.1_Silent_p.Y224Y|ABCA5_ENST00000392677.2_Silent_p.Y224Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	224					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTATAACTAGGTATATTAAAA	0.323000													11	13					0	0	0.00010058	0	0
TMC1	117531	broad.mit.edu	37	9	75387400	75387400	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:75387400C>T	ENST00000297784.5	+	13	1353	c.813C>T	c.(811-813)ttC>ttT	p.F271F	TMC1_ENST00000340019.3_Silent_p.F271F|TMC1_ENST00000396237.3_Silent_p.F271F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	271					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GGATGAATTTCAGGTTGCCGC	0.398000													38	37					0	0	0.000228196	0	0
PCLO	27445	broad.mit.edu	37	7	82546123	82546123	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:82546123G>A	ENST00000423517.2	-	7	11516	c.11179C>T	c.(11179-11181)Cca>Tca	p.P3727S	PCLO_ENST00000437081.1_Missense_Mutation_p.P447S|PCLO_ENST00000333891.8_Missense_Mutation_p.P3727S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3658					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGGAGGTGGATTTGGCAGA	0.423000													6	21					0	0	0.000274275	0	0
TEX101	83639	broad.mit.edu	37	19	43920687	43920687	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:43920687G>T	ENST00000602198.1	+	6	867	c.425G>T	c.(424-426)tGg>tTg	p.W142L	TEX101_ENST00000598265.1_Missense_Mutation_p.W124L|TEX101_ENST00000253435.7_Missense_Mutation_p.W142L|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	124						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTCAGTTTTGGGAGTTCAGT	0.488000													32	171					1.08052e-11	1.76115e-10	0.000814825	1	0
MYH8	4626	broad.mit.edu	37	17	10293814	10293814	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10293814C>T	ENST00000403437.2	-	40	5865	c.5771G>A	c.(5770-5772)cGa>cAa	p.R1924Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1924					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCTTCACTCGCAATTTGTT	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				27	151					0	0	0.000720815	0	0
RP1L1	94137	broad.mit.edu	37	8	10466293	10466293	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:10466293C>T	ENST00000382483.3	-	4	5538	c.5315G>A	c.(5314-5316)aGa>aAa	p.R1772K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1772					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCCCTTCTCTCTCCTGAGC	0.577000													22	105					0	0	0.000878237	0	0
HIPK2	28996	broad.mit.edu	37	7	139416787	139416787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:139416787G>A	ENST00000406875.3	-	2	141	c.47C>T	c.(46-48)tCc>tTc	p.S16F	HIPK2_ENST00000428878.2_Missense_Mutation_p.S16F|HIPK2_ENST00000342645.6_Missense_Mutation_p.S16F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	16					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTGTGAGGGGAGAAAACTTG	0.463000													14	30					0	0	0.000422831	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083958	106083958	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:106083958C>T	ENST00000357242.5	+	10	1737	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	TBC1D8B_ENST00000310452.2_Silent_p.S521S|TBC1D8B_ENST00000276175.3_Silent_p.S515S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	521	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGAGCAGTCCTTAGGGACCT	0.433000													8	18					0	0	0.000673444	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26881656	26881656	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:26881656G>A	ENST00000374168.2	+	10	925	c.771G>A	c.(769-771)acG>acA	p.T257T	RPS6KA1_ENST00000530003.1_Silent_p.T241T|RPS6KA1_ENST00000531382.1_Silent_p.T266T|RPS6KA1_ENST00000526792.1_Silent_p.T165T|RPS6KA1_ENST00000374162.2_Silent_p.T165T|RPS6KA1_ENST00000374166.4_Intron	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	257	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T266T(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGATGCTGACGGGCTCCCTGC	0.592000													6	51					0	0	8.12818e-05	0	0
PDE6B	5158	broad.mit.edu	37	4	651250	651250	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:651250G>A	ENST00000255622.6	+	10	1411	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	PDE6B_ENST00000429163.2_Silent_p.V177V|PDE6B_ENST00000496514.1_Silent_p.V456V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	456					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TTTACCACGTGAAGTGCGACA	0.612000													8	66					0	0	6.40141e-05	0	0
NLRP3	114548	broad.mit.edu	37	1	247587448	247587448	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:247587448C>T	ENST00000366497.2	+	4	1483	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	NLRP3_ENST00000391827.2_Silent_p.L235L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.L235L|NLRP3_ENST00000336119.3_Silent_p.L235L|NLRP3_ENST00000366496.2_Silent_p.L235L|NLRP3_ENST00000391828.3_Silent_p.L235L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	235	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAAACAATCCTGGCCAGGAA	0.532000													10	56					0	0	0.000442599	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462224	5462224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:5462224C>T	ENST00000296564.7	+	13	2999	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	926								p.P926Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGCATTTCACCAGAAGTTTCT	0.398000													13	40					0	0	0.00010058	0	0
RHCG	51458	broad.mit.edu	37	15	90023616	90023616	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:90023616C>T	ENST00000268122.4	-	4	614	c.546G>A	c.(544-546)atG>atA	p.M182I	RHCG_ENST00000544600.1_Missense_Mutation_p.M182I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	182					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGTGGATGGTCATGGAGCCTC	0.577000													13	130					0	0	0.000151284	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993513	140993513	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:140993513C>T	ENST00000285879.4	+	4	609	c.323C>T	c.(322-324)tCc>tTc	p.S108F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	108							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAGGACTCCCTGTCTCCT	0.547000										HNSCC(15;0.026)			26	24					0	0	0.000720815	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865866	6865866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:6865866C>T	ENST00000307659.5	+	7	4212	c.3757C>T	c.(3757-3759)Cct>Tct	p.P1253S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1253S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1253							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTGTCAGTTTCCTGCTTATGA	0.378000													6	45					0	0	0.000157383	0	0
AFF2	2334	broad.mit.edu	37	X	148044319	148044319	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:148044319A>C	ENST00000370460.2	+	13	3244	c.2765A>C	c.(2764-2766)gAg>gCg	p.E922A	AFF2_ENST00000286437.5_Missense_Mutation_p.E563A|AFF2_ENST00000370457.5_Missense_Mutation_p.E889A|AFF2_ENST00000342251.3_Missense_Mutation_p.E889A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	922					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCCAGAGGACCCTCCA	0.443000													6	6					0	0	0.000274275	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462223	5462223	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:5462223C>T	ENST00000296564.7	+	13	2998	c.2776C>T	c.(2776-2778)Cca>Tca	p.P926S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	926										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGCATTTCACCAGAAGTTTC	0.393000													13	41					0	0	0.00010058	0	0
GEM	2669	broad.mit.edu	37	8	95262715	95262715	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:95262715C>T	ENST00000297596.2	-	5	978	c.714G>A	c.(712-714)caG>caA	p.Q238Q	GEM_ENST00000396194.2_Silent_p.Q238Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	238					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAAGGCGCACCTGTCGCACAA	0.582000													5	30					0	0	3.59834e-05	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519357	50519357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:50519357G>A	ENST00000267842.5	+	7	1671	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R427K|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R245K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	480					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTCCACGACAGAGTTGGAGAT	0.393000													6	59					0	0	8.12818e-05	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	57					0	0	0.00024832	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473085	22473085	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:22473085C>T	ENST00000557788.2	-	0	185																											CCAGCCCCTTCCCTGGGGGCT	0.572000													14	249					0	0	0.000308642	0	0
PXDN	7837	broad.mit.edu	37	2	1652770	1652770	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:1652770C>T	ENST00000252804.4	-	17	2832	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	928					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGCCAGGTCGCGGATGCTG	0.692000													8	20					0	0	6.40141e-05	0	0
CTR9	9646	broad.mit.edu	37	11	10783502	10783502	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:10783502C>T	ENST00000361367.2	+	7	1176	c.750C>T	c.(748-750)tcC>tcT	p.S250S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	250					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGCTGATTCCATTAAAAATG	0.338000													6	11					0	0	8.12818e-05	0	0
IFNAR2	3455	broad.mit.edu	37	21	34617308	34617308	+	Silent	SNP	C	C	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:34617308C>A	ENST00000404220.3	+	4	479	c.150C>A	c.(148-150)tcC>tcA	p.S50S	IFNAR2_ENST00000342136.4_Silent_p.S50S|IFNAR2_ENST00000382241.3_Silent_p.S50S|IFNAR2_ENST00000382264.3_Silent_p.S50S|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000342101.3_Silent_p.S50S			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	50					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATTTCCGGTCCATCTTATCAT	0.353000													14	89					1.3612e-06	2.19883e-05	0.000308642	1	0
TMEM26	219623	broad.mit.edu	37	10	63170422	63170422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:63170422C>T	ENST00000399298.3	-	6	1133	c.765G>A	c.(763-765)tgG>tgA	p.W255*	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	255						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TTCCGATGTTCCACAGATCGG	0.483000													5	15					0	0	3.59834e-05	0	0
KCND2	3751	broad.mit.edu	37	7	119915143	119915143	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:119915143G>A	ENST00000331113.4	+	1	1422	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	153					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGACGACGCGGATACCGACAC	0.632000													11	73					0	0	6.40141e-05	0	0
COL5A1	1289	broad.mit.edu	37	9	137623968	137623968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:137623968G>A	ENST00000371817.3	+	9	1798	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	462	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E462K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCGATTATCGAGCCGGTGAG	0.582000													18	66					0	0	0.00074312	0	0
PTPRF	5792	broad.mit.edu	37	1	44085235	44085235	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:44085235C>T	ENST00000359947.4	+	28	5263	c.4923C>T	c.(4921-4923)ctC>ctT	p.L1641L	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.L1632L|PTPRF_ENST00000438120.1_Silent_p.L1632L|PTPRF_ENST00000422171.2_Silent_p.L1000L|PTPRF_ENST00000372414.3_Silent_p.L1641L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1641	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATGGAGCTCGAGTTCAAGG	0.652000													15	49					0	0	0.000229342	0	0
MYH8	4626	broad.mit.edu	37	17	10299683	10299683	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:10299683C>T	ENST00000403437.2	-	33	4711	c.4617G>A	c.(4615-4617)gaG>gaA	p.E1539E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1539					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCACATTTCTCTTGTTCTA	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	33					0	0	0.000442599	0	0
RPL7L1	285855	broad.mit.edu	37	6	42851233	42851233	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:42851233C>T	ENST00000493763.1	+	3	468	c.165C>T	c.(163-165)ttC>ttT	p.F55F	RPL7L1_ENST00000602561.1_Silent_p.F55F|RPL7L1_ENST00000424341.2_Silent_p.F55F|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Silent_p.F55F	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	55					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TGGAATCATTCCTACATGATT	0.448000													16	96					0	0	0.000422831	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378071	48378071	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:48378071C>T	ENST00000222002.3	-	5	727	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	196					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GACAGATCTTCTCTATGGTTC	0.433000													17	74					0	0	0.000132079	0	0
EPHA3	2042	broad.mit.edu	37	3	89448538	89448538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:89448538C>T	ENST00000336596.2	+	7	1727	c.1502C>T	c.(1501-1503)cCt>cTt	p.P501L	EPHA3_ENST00000494014.1_Missense_Mutation_p.P501L|EPHA3_ENST00000452448.2_Missense_Mutation_p.P501L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	501	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGCCTCAAGCCTGACACTATA	0.428000										TSP Lung(6;0.00050)			14	29					0	0	0.000308642	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003881	34003881	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:34003881C>T	ENST00000382491.3	-	28	4129	c.4005G>A	c.(4003-4005)cgG>cgA	p.R1335R	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.R1421R|SYNJ1_ENST00000322229.7_Silent_p.R1382R	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1382	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGATTGACTCCGAGCTGGAA	0.468000													5	21					0	0	0.000602214	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019281	27019281	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:27019281C>T	ENST00000354760.3	+	3	158	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	41	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AGCTTGGCTTCGAGACTGTGC	0.602000													30	60					0	0	0.00058488	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545621	234545621	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:234545621T>A	ENST00000344644.5	+	1	522	c.453T>A	c.(451-453)gaT>gaA	p.D151E	UGT1A10_ENST00000373445.1_Missense_Mutation_p.D151E|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTTTTGATACCTGTGGCT	0.403000													15	72					0	0	0.000219431	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421446	62421446	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:62421446C>G	ENST00000245663.4	-	2	815	c.665G>C	c.(664-666)gGc>gCc	p.G222A	ZBTB46_ENST00000302995.2_Missense_Mutation_p.G222A|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G222A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGCCCGTAGCCCACGTCTCC	0.587000													5	40					0	0	8.12818e-05	0	0
VSX2	338917	broad.mit.edu	37	14	74711925	74711925	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:74711925C>T	ENST00000261980.2	+	3	603	c.513C>T	c.(511-513)caC>caT	p.H171H		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	171					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		ACGAAGCCCACTACCCAGACG	0.562000													6	25					0	0	3.59834e-05	0	0
ZFP82	284406	broad.mit.edu	37	19	36884606	36884606	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:36884606G>A	ENST00000392161.3	-	5	878	c.636C>T	c.(634-636)caC>caT	p.H212H	ZFP82_ENST00000392171.1_Silent_p.H212H	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCGAGTAAGGTGTGCAGTCT	0.423000													12	64					0	0	6.40141e-05	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428646	190428646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:190428646C>T	ENST00000261024.2	-	7	1492	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	356					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GCTACAGTTCCCATTATTCCA	0.473000													9	11					0	0	0.000274275	0	0
BSND	7809	broad.mit.edu	37	1	55464880	55464880	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:55464880C>T	ENST00000371265.4	+	1	275	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	7						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.F7F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGAAGACCTTCCGGATCGGCT	0.617000													38	92					0	0	0.000589545	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196792	80196792	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:80196792C>T	ENST00000581287.1	+	4	3660	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	SLC16A3_ENST00000582743.1_Silent_p.F446F|SLC16A3_ENST00000392341.1_Silent_p.F446F|SLC16A3_ENST00000392339.1_Silent_p.F446F	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	446					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGGAGCATTTCCTGAAGGCTG	0.642000													64	73					0	0	0.000781405	0	0
MARK3	4140	broad.mit.edu	37	14	103958222	103958222	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:103958222C>T	ENST00000429436.2	+	15	2205	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000440884.3_Silent_p.F486F|MARK3_ENST00000335102.5_Silent_p.F588F|MARK3_ENST00000303622.9_Silent_p.F565F|MARK3_ENST00000553942.1_Silent_p.F565F|MARK3_ENST00000216288.7_Silent_p.F549F|MARK3_ENST00000416682.2_Silent_p.F588F	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	565							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTAGCACTTTCCACGGCCAGC	0.577000													11	23					0	0	0.00010058	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485020	97485020	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:97485020G>A	ENST00000376705.2	+	2	1008	c.984G>A	c.(982-984)atG>atA	p.M328I		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	328						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGACTTTCATGAACGAGAGTG	0.502000													8	41					0	0	6.40141e-05	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907155	29907155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:29907155C>T	ENST00000308713.5	-	4	1065	c.538G>A	c.(538-540)Ggc>Agc	p.G180S	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G136S|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G110S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	180	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCCTTCGCCCTCGGAGATG	0.567000													6	81					0	0	0.000157383	0	0
MAP1A	4130	broad.mit.edu	37	15	43819178	43819178	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:43819178C>T	ENST00000382031.1	+	5	6252	c.6221C>T	c.(6220-6222)cCc>cTc	p.P2074L	MAP1A_ENST00000300231.5_Missense_Mutation_p.P1836L|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1836L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1836						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCACTACTCCCTCATGGCTG	0.612000													8	69					0	0	0.000274275	0	0
CSHL1	1444	broad.mit.edu	37	17	61988101	61988101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:61988101G>A	ENST00000392824.4	-	2	255	c.194C>T	c.(193-195)gCg>gTg	p.A65V	CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	65						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCCCTGACCCGCACCCATTCC	0.532000													34	249					0	0	0.000437636	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227583	56227583	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:56227583G>A	ENST00000341744.3	-	4	709	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PMEPA1_ENST00000395816.3_Silent_p.F80F|PMEPA1_ENST00000395814.1_Silent_p.F80F|PMEPA1_ENST00000347215.4_Silent_p.F95F|PMEPA1_ENST00000265626.4_Silent_p.F80F	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	130					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGAAGCGGTGGAAGCGCTCCC	0.711000													6	15					0	0	0.000157383	0	0
STRA6	64220	broad.mit.edu	37	15	74472546	74472546	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:74472546C>T	ENST00000323940.5	-	19	2124	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	STRA6_ENST00000416286.3_Missense_Mutation_p.G619R|STRA6_ENST00000535552.1_Missense_Mutation_p.G664R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Missense_Mutation_p.G627R|STRA6_ENST00000574278.1_Missense_Mutation_p.G642R|STRA6_ENST00000423167.2_Missense_Mutation_p.G618R|STRA6_ENST00000395105.4_Missense_Mutation_p.G627R|STRA6_ENST00000563965.1_Missense_Mutation_p.G666R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	627					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCCTAGCTCCCTTGGCCATG	0.637000													29	167					0	0	0.000814825	0	0
INHBB	3625	broad.mit.edu	37	2	121106796	121106796	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:121106796G>A	ENST00000295228.3	+	2	616	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	190					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACGTCCTGGAGAAGGGCAGCC	0.582000													18	85					0	0	0.00074312	0	0
GRIK3	2899	broad.mit.edu	37	1	37270629	37270629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:37270629C>T	ENST00000373091.3	-	15	2540	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	GRIK3_ENST00000373093.4_Missense_Mutation_p.E842K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	842					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TACACAAACTCGCCCACGGCC	0.572000													10	61					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179665300	179665300	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:179665300C>T	ENST00000589042.1	-	4	629	c.405G>A	c.(403-405)gtG>gtA	p.V135V	TTN_ENST00000460472.2_Silent_p.V135V|TTN_ENST00000360870.5_Silent_p.V135V|TTN_ENST00000342992.6_Silent_p.V135V|TTN_ENST00000342175.6_Silent_p.V135V|TTN_ENST00000591111.1_Silent_p.V135V|TTN_ENST00000359218.5_Silent_p.V135V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	135	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCACCACAGGTG	0.507000													6	64					0	0	3.59834e-05	0	0
TARBP1	6894	broad.mit.edu	37	1	234541794	234541794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:234541794G>A	ENST00000040877.1	-	24	3843	c.3844C>T	c.(3844-3846)Cac>Tac	p.H1282Y	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1282					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAAATTGTGATTGAAACAC	0.378000													28	76					0	0	0.000491102	0	0
NLRP2	55655	broad.mit.edu	37	19	55494629	55494629	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:55494629G>A	ENST00000543010.1	+	6	1706	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	NLRP2_ENST00000391721.4_Silent_p.E497E|NLRP2_ENST00000448584.2_Silent_p.E521E|NLRP2_ENST00000537859.1_Silent_p.E499E|NLRP2_ENST00000427260.2_Silent_p.E498E|NLRP2_ENST00000538819.1_Silent_p.E497E|NLRP2_ENST00000263437.6_Silent_p.E518E|NLRP2_ENST00000339757.7_Silent_p.E499E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	521	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGGAGGAGGAAGAGGATA	0.567000													12	77					0	0	0.000308642	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81060555	81060555	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:81060555C>T	ENST00000334512.5	+	17	2447	c.1875C>T	c.(1873-1875)ccC>ccT	p.P625P		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	625					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCAACTGGCCCGCCTCGGTGC	0.637000													6	25					0	0	8.12818e-05	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012782	73012782	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:73012782C>T	ENST00000308744.6	+	4	920	c.822C>T	c.(820-822)atC>atT	p.I274I	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I172I|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.I175I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	274					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCCTAGCCATCACCATTATGT	0.408000													8	66					0	0	0.000274275	0	0
COL11A1	1301	broad.mit.edu	37	1	103428302	103428302	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:103428302C>T	ENST00000358392.2	-	39	3284	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	COL11A1_ENST00000512756.1_Silent_p.E861E|COL11A1_ENST00000370096.3_Silent_p.E977E|COL11A1_ENST00000353414.4_Silent_p.E938E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	977	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGACCAGTCTCACCGGTTG	0.443000													9	23					0	0	0.000673444	0	0
KIAA2022	340533	broad.mit.edu	37	X	73965442	73965442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:73965442C>T	ENST00000373468.1	-	2	695	c.44G>A	c.(43-45)gGa>gAa	p.G15E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G15E			Q5QGS0	K2022_HUMAN	KIAA2022	15					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTGTTTTCTCCGTTGGCTGA	0.358000													4	13					0	0	0.00024832	0	0
DSE	29940	broad.mit.edu	37	6	116720663	116720663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:116720663G>A	ENST00000331677.3	+	3	694	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	DSE_ENST00000359564.2_Missense_Mutation_p.E84K|DSE_ENST00000452085.3_Missense_Mutation_p.E84K|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.E103K			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	84					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGCCCCTTGGAATACCTCCC	0.587000													9	27					0	0	0.000274275	0	0
FASTKD2	22868	broad.mit.edu	37	2	207651540	207651540	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:207651540C>T	ENST00000236980.6	+	8	1859	c.1511C>T	c.(1510-1512)tCa>tTa	p.S504L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.S504L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.S504L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	504					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCAGTATATTCATTTTGCTTG	0.403000													15	23					0	0	0.000219431	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015102	203015102	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:203015102C>T	ENST00000367240.2	+	8	1519	c.992C>T	c.(991-993)tCc>tTc	p.S331F	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S331F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S38F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	259					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AACAAGGAGTCCCTGCACCGC	0.577000													42	210					0	0	0.000781405	0	0
NLRP8	126205	broad.mit.edu	37	19	56487605	56487605	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:56487605G>A	ENST00000291971.3	+	8	2883	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D919N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	938						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAGCCTGAAGGATGATGGGGT	0.463000													9	34					0	0	0.000442599	0	0
KRT5	3852	broad.mit.edu	37	12	52913666	52913666	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:52913666C>T	ENST00000252242.4	-	1	805	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	139	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTGGATACCTCCAGGAGGG	0.622000													11	48					0	0	0.000673444	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004335	100004335	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:100004335G>A	ENST00000398027.2	-	12	1399	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	ZCWPW1_ENST00000324725.6_Silent_p.S264S|ZCWPW1_ENST00000360951.4_Silent_p.S385S|ZCWPW1_ENST00000490721.1_Silent_p.S264S	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	384							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATAGCTCCAGGGACAGCTCCT	0.418000													9	74					0	0	6.40141e-05	0	0
PTH2R	5746	broad.mit.edu	37	2	209358320	209358320	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:209358320C>T	ENST00000272847.2	+	13	1802	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	530						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAGAAGCCTTCCAGGCCTATG	0.502000													27	76					0	0	0.000720815	0	0
SCN10A	6336	broad.mit.edu	37	3	38768220	38768220	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:38768220G>A	ENST00000449082.2	-	16	2963	c.2964C>T	c.(2962-2964)atC>atT	p.I988I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	988					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGGATTAGCGATGAAGTCAC	0.572000													18	33					0	0	0.00074312	0	0
TMEM147	10430	broad.mit.edu	37	19	36036708	36036708	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:36036708T>G	ENST00000222284.5	+	1	212	c.67T>G	c.(67-69)Tgc>Ggc	p.C23G	TMEM147_ENST00000392204.2_5'UTR|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.C23G	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	23						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCTACAAGTGCAGCGGCCT	0.682000													13	44					0	0	0.000566183	0	0
CBX2	84733	broad.mit.edu	37	17	77755739	77755739	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:77755739G>A	ENST00000269399.5	+	4	469	c.427G>A	c.(427-429)Gag>Aag	p.E143K	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	0					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGAAAACAGGAGCCCCCTTT	0.657000													15	147					0	0	0.000219431	0	0
OR6K6	128371	broad.mit.edu	37	1	158724725	158724725	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:158724725C>T	ENST00000368144.2	+	1	216	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGACTGAGTTCCTCTTCTCTA	0.428000													11	86					0	0	6.40141e-05	0	0
MTUS2	23281	broad.mit.edu	37	13	29600487	29600487	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:29600487C>T	ENST00000431530.3	+	1	1740	c.1682C>T	c.(1681-1683)cCc>cTc	p.P561L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	551						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTACAACACCCAGTAGCAGT	0.512000													9	46					0	0	0.000673444	0	0
INPP4A	3631	broad.mit.edu	37	2	99204045	99204045	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:99204045G>A	ENST00000074304.5	+	26	3301	c.2908G>A	c.(2908-2910)Ggg>Agg	p.G970R	INPP4A_ENST00000523221.1_Missense_Mutation_p.G970R|INPP4A_ENST00000409016.3_Missense_Mutation_p.G931R|INPP4A_ENST00000409463.1_Missense_Mutation_p.G299R|INPP4A_ENST00000409851.3_Missense_Mutation_p.G965R|INPP4A_ENST00000545415.1_Missense_Mutation_p.G931R	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	970					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCTCCCGAAGGGACTTACGG	0.403000													28	109					0	0	0.000339439	0	0
TULP1	7287	broad.mit.edu	37	6	35478663	35478663	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:35478663C>T	ENST00000229771.6	-	5	553	c.474G>A	c.(472-474)agG>agA	p.R158R	TULP1_ENST00000322263.4_Silent_p.R105R	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	158					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTTGGCCCTCCTCTCCTTCA	0.597000													22	92					0	0	0.000295444	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433836	72433836	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:72433836C>T	ENST00000373517.3	-	1	848	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	NAP1L2_ENST00000536638.1_Missense_Mutation_p.E23K	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	165	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TATTCACATTCCTCTTCTGTA	0.378000													41	57					0	0	0.000680045	0	0
MYF5	4617	broad.mit.edu	37	12	81112667	81112667	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:81112667C>T	ENST00000228644.3	+	3	757	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	202					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AACTCCTTATCCAGCTTGGAT	0.438000													33	67					0	0	0.000191422	0	0
GRM3	2913	broad.mit.edu	37	7	86479836	86479836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:86479836G>A	ENST00000439827.1	+	4	1646	c.1475G>A	c.(1474-1476)tGg>tAg	p.W492*	GRM3_ENST00000546348.1_Missense_Mutation_p.G440R|GRM3_ENST00000361669.2_Missense_Mutation_p.G848R|GRM3_ENST00000536043.1_Missense_Mutation_p.G720R|GRM3_ENST00000394720.2_Nonsense_Mutation_p.W490*			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGTGTCAGTGGAACTGGGAC	0.478000													8	19					0	0	0.000442599	0	0
NCOA7	135112	broad.mit.edu	37	6	126242091	126242091	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:126242091C>T	ENST00000368357.3	+	13	2599	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	NCOA7_ENST00000392477.2_Silent_p.I749I|NCOA7_ENST00000229634.9_Silent_p.I634I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	749					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTCAGATCATCACTGTTG	0.463000													4	12					0	0	0.00024832	0	0
GCNT3	9245	broad.mit.edu	37	15	59910437	59910437	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:59910437G>A	ENST00000396065.1	+	0	448				GCNT3_ENST00000560585.1_De_novo_Start_InFrame	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type						protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCTGTGACGATGGTTCAAT	0.502000													10	52					0	0	6.40141e-05	0	0
CNGA2	1260	broad.mit.edu	37	X	150912208	150912208	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:150912208G>A	ENST00000329903.4	+	6	1266	c.1233G>A	c.(1231-1233)agG>agA	p.R411R		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	411					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCATTAGGTGGTTTGACT	0.502000													12	30					0	0	0.000219431	0	0
C1orf106	55765	broad.mit.edu	37	1	200877908	200877908	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:200877908C>T	ENST00000367342.4	+	7	1080	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	C1orf106_ENST00000413687.2_Missense_Mutation_p.R209W	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	294	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCACCTTCTCGGCCTCTCCC	0.612000													14	223					0	0	0.000566183	0	0
MARCH1	55016	broad.mit.edu	37	4	164506904	164506904	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:164506904C>T	ENST00000503008.1	-	6	1396	c.420G>A	c.(418-420)cgG>cgA	p.R140R	MARCH1_ENST00000274056.7_Silent_p.R140R|MARCH1_ENST00000514618.1_Silent_p.R396R|MARCH1_ENST00000339875.5_Silent_p.R123R	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	140					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R123R(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGTACCTTCCGGAGGGGTT	0.453000													7	38					0	0	0.000157383	0	0
ZNF331	55422	broad.mit.edu	37	19	54080376	54080376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:54080376G>A	ENST00000253144.9	+	7	1895	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ZNF331_ENST00000512387.1_Missense_Mutation_p.E188K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E188K|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.E188K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E188K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E188K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E188K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAGCCCTACGAATGTAAAGA	0.423000			T	?	follicular thyroid adenoma								12	81					0	0	0.00010058	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512885	41512885	+	Missense_Mutation	SNP	G	G	A	rs141530852		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:41512885G>A	ENST00000324071.4	+	4	567	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	187					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTTGGAAAACGATTCCACTAC	0.507000													11	47					0	0	0.000151284	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745591	140745591	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140745591C>T	ENST00000518069.1	+	1	1694	c.1694C>T	c.(1693-1695)cCc>cTc	p.P565L	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTACCCCGCCCTCCCC	0.612000													18	100					0	0	0.000229342	0	0
RNF181	51255	broad.mit.edu	37	2	85824241	85824241	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:85824241C>T	ENST00000441634.1	+	4	381	c.342C>T	c.(340-342)ccC>ccT	p.P114P	RNF181_ENST00000306368.4_Silent_p.P114P			Q9P0P0	RN181_HUMAN	ring finger protein 181	114							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						ATTCCTGTCCCTTGTGCCGCT	0.512000													40	150					0	0	0.000680045	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532155	140532155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140532155C>T	ENST00000231136.1	+	1	2317	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P637S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		773					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCAACTTCCCTCCTCAGGG	0.483000													21	72					0	0	0.000229342	0	0
TMEM19	55266	broad.mit.edu	37	12	72091168	72091168	+	Missense_Mutation	SNP	C	C	T	rs139343453		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:72091168C>T	ENST00000266673.5	+	4	1085	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TMEM19_ENST00000549735.1_Missense_Mutation_p.S164F|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	164						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTCGATTTTTCCAAGCAGTAC	0.522000													22	52					0	0	0.000295444	0	0
SYNE1	23345	broad.mit.edu	37	6	152651175	152651175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:152651175C>T	ENST00000367255.5	-	78	15246	c.14645G>A	c.(14644-14646)cGa>cAa	p.R4882Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.R4811Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4629Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4882Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4811Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4882					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCACCATTCGGCTCTCACA	0.532000										HNSCC(10;0.0054)			5	27					0	0	0.000602214	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965638	102965638	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:102965638C>T	ENST00000233954.1	+	10	1488	c.1217C>T	c.(1216-1218)cCt>cTt	p.P406L		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	406	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CAGATTCTGCCTGATGTTCTT	0.418000													10	32					0	0	6.40141e-05	0	0
COL3A1	1281	broad.mit.edu	37	2	189875617	189875617	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:189875617G>A	ENST00000304636.3	+	50	4424		c.e50+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTTGCACGGTAGGAAACAT	0.348000													9	41					0	0	6.40141e-05	0	0
OR2C3	81472	broad.mit.edu	37	1	247695301	247695301	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:247695301C>T	ENST00000366487.3	-	2	874	c.513G>A	c.(511-513)ggG>ggA	p.G171G	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCAATTGTTCCCACACAGCG	0.562000													9	26					0	0	0.000442599	0	0
CP	1356	broad.mit.edu	37	3	148939460	148939460	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:148939460C>T	ENST00000264613.6	-	1	382	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	40	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCTTTTCCCCATGGTCAG	0.323000													5	37					0	0	0.000274275	0	0
BEST3	144453	broad.mit.edu	37	12	70049108	70049108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:70049108G>A	ENST00000330891.5	-	10	1812	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	BEST3_ENST00000553096.1_Missense_Mutation_p.S423F|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.S316F	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	529						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTAAACTCAGAGCTCAAGAT	0.572000													13	48					0	0	0.00010058	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016294	134016294	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:134016294G>A	ENST00000338492.4	+	12	1590	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	476					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AACATTCCCGGACTTTGTCTA	0.622000													11	54					0	0	6.40141e-05	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	RNA	SNP	T	T	C	rs62282793	by1000genomes	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:195692311T>C	ENST00000427841.1	-	0	2191					NR_003264.2																						TTCCCAGTGCTGACGTCCACA	0.607000													4	17					0	0	3.59834e-05	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719702	160719702	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:160719702G>A	ENST00000368043.3	+	3	505	c.468G>A	c.(466-468)ggG>ggA	p.G156G	SLAMF7_ENST00000458602.2_Silent_p.G49G|SLAMF7_ENST00000458104.2_Silent_p.G49G|SLAMF7_ENST00000368042.3_Silent_p.G49G|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.G156G	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	156	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGAACATGGGGAAGAGGATG	0.522000													8	64					0	0	0.000274275	0	0
TNXB	7148	broad.mit.edu	37	6	32015584	32015584	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:32015584C>T	ENST00000375244.3	-	30	10452	c.10251G>A	c.(10249-10251)agG>agA	p.R3417R	TNXB_ENST00000375247.2_Silent_p.R3415R			P22105	TENX_HUMAN	tenascin XB	3462	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCTGTATTTCCTACTGGGCT	0.602000													16	100					0	0	0.000308642	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884064	205884064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:205884064G>A	ENST00000367134.2	-	22	2733	c.2620C>T	c.(2620-2622)Cca>Tca	p.P874S	SLC26A9_ENST00000367135.3_3'UTR|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P874S	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGCCGTGTGGGCTCTGGGAC	0.522000													17	136					0	0	0.000132079	0	0
FCHSD1	89848	broad.mit.edu	37	5	141025397	141025397	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:141025397C>T	ENST00000435817.2	-	13	1302	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Missense_Mutation_p.V342M|FCHSD1_ENST00000522783.1_Intron	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	418									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCTCCACCTCATCCTGG	0.657000													4	8					0	0	0.000602214	0	0
TRAF3	7187	broad.mit.edu	37	14	103369643	103369643	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:103369643C>T	ENST00000560371.1	+	10	1229	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	TRAF3_ENST00000392745.2_Missense_Mutation_p.R338W|TRAF3_ENST00000347662.4_Missense_Mutation_p.R313W|TRAF3_ENST00000351691.5_Missense_Mutation_p.R313W|TRAF3_ENST00000539721.1_Missense_Mutation_p.R255W	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	338					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CAAGGAGATCCGGCCCTTCCG	0.542000													14	56					0	0	0.000422831	0	0
DEPDC4	120863	broad.mit.edu	37	12	100656056	100656056	+	Missense_Mutation	SNP	C	C	T	rs145497556		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:100656056C>T	ENST00000416321.1	-	3	688	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	229					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTTTGAAAGCCGGAGAAAAGG	0.343000													10	50					0	0	0.000673444	0	0
ENPP4	22875	broad.mit.edu	37	6	46111310	46111310	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:46111310T>A	ENST00000321037.4	+	4	1525	c.1295T>A	c.(1294-1296)cTt>cAt	p.L432H		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	432						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAGAATAGACTTTCTGTACCT	0.413000													5	28					0	0	0.000602214	0	0
GBA3	57733	broad.mit.edu	37	4	22749269	22749269	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:22749269C>T	ENST00000508166.1	+	0	739				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.R213*(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTTATTTCGAAAAAAGCA	0.473000													6	71					0	0	3.59834e-05	0	0
ZNF554	115196	broad.mit.edu	37	19	2832352	2832352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:2832352C>T	ENST00000317243.5	+	4	503	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF554_ENST00000591265.1_Missense_Mutation_p.S102F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	102	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACTTTCCCCAGCACAA	0.438000													23	117					0	0	0.00047179	0	0
VIL1	7429	broad.mit.edu	37	2	219295545	219295545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:219295545G>A	ENST00000248444.5	+	10	1134	c.1046G>A	c.(1045-1047)tGg>tAg	p.W349*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.W38*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.W349*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	349	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCAGAAGTGGACAGCGTCC	0.612000													5	39					0	0	0.000602214	0	0
LMX1A	4009	broad.mit.edu	37	1	165183036	165183036	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:165183036C>T	ENST00000342310.3	-	5	893	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	LMX1A_ENST00000294816.2_Missense_Mutation_p.E171K|LMX1A_ENST00000367893.4_Missense_Mutation_p.E171K	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGACTTTCTTCATCATCACTT	0.498000													7	125					0	0	0.000157383	0	0
MYLK4	340156	broad.mit.edu	37	6	2671570	2671570	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:2671570G>A	ENST00000274643.7	-	12	1474	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	MYLK4_ENST00000268446.5_Missense_Mutation_p.R378C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	378							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCAGAGCCACGATTCTTCTTC	0.473000													12	42					0	0	0.000422831	0	0
PDIA4	9601	broad.mit.edu	37	7	148701009	148701009	+	Silent	SNP	G	G	A	rs142824594		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:148701009G>A	ENST00000286091.4	-	10	2047	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	605	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACTGGGGGCGAAGTAGATGG	0.527000													12	68					0	0	0.000151284	0	0
KL	9365	broad.mit.edu	37	13	33635042	33635042	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:33635042C>T	ENST00000380099.3	+	4	1834	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	609	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTAACCAGTCCCAGGTGAAC	0.582000													8	76					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179569996	179569996	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:179569996T>C	ENST00000589042.1	-	103	29733	c.29509A>G	c.(29509-29511)Aaa>Gaa	p.K9837E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K8593E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K9520E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9520	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGCATATTTTTCATATTCT	0.373000													9	26					0	0	0.000274275	0	0
SYT13	57586	broad.mit.edu	37	11	45267949	45267949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:45267949C>T	ENST00000020926.3	-	5	1072	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	321	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCCAGGAGCTCCTTGGACTGG	0.592000													16	22					0	0	0.000566183	0	0
XIRP2	129446	broad.mit.edu	37	2	168104833	168104833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:168104833C>T	ENST00000409195.1	+	9	7020	c.6931C>T	c.(6931-6933)Cct>Tct	p.P2311S	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2311S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2089S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2136					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTCCTCTTCCTCCTCCACC	0.443000													6	17					0	0	8.12818e-05	0	0
OR2T12	127064	broad.mit.edu	37	1	248458452	248458452	+	Silent	SNP	G	G	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:248458452G>T	ENST00000317996.1	-	1	428	c.429C>A	c.(427-429)acC>acA	p.T143T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T143T(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGACGACATGGTCATCCTCA	0.587000													13	42					1.5739e-10	2.55152e-09	0.000422831	1	0
CD2	914	broad.mit.edu	37	1	117307203	117307203	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:117307203G>A	ENST00000369478.3	+	4	819	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	237					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TCACCAAAAGGAAAAAACAGA	0.493000													25	58					0	0	0.00047179	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399797	89399797	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:89399797C>T	ENST00000479981.1	-	0	57																											AGCAGGAGCCCCAGGAGCTGA	0.522000													4	17					0	0	8.12818e-05	0	0
HERC1	8925	broad.mit.edu	37	15	63986245	63986245	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:63986245G>A	ENST00000443617.2	-	30	5679	c.5592C>T	c.(5590-5592)ttC>ttT	p.F1864F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1864					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ccccttctccGAAAGAGGCCA	0.403000													4	13					0	0	0.00024832	0	0
CD96	10225	broad.mit.edu	37	3	111325559	111325559	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:111325559C>T	ENST00000352690.4	+	8	1340	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	CD96_ENST00000283285.5_Missense_Mutation_p.S383F|CD96_ENST00000438817.2_Missense_Mutation_p.S367F	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	383	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCTGAAATTTCCTCAACAGAC	0.358000									Opitz Trigonocephaly syndrome				6	24					0	0	3.59834e-05	0	0
BSND	7809	broad.mit.edu	37	1	55464879	55464879	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:55464879T>G	ENST00000371265.4	+	1	274	c.20T>G	c.(19-21)tTc>tGc	p.F7C		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	7						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GAGAAGACCTTCCGGATCGGC	0.612000													38	92					0	0	0.000781405	0	0
DNAH11	8701	broad.mit.edu	37	7	21628922	21628922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:21628922G>A	ENST00000328843.6	+	12	2101	c.2070G>A	c.(2068-2070)tgG>tgA	p.W690*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.W690*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	690	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATAATGAATGGAAAAGTAATG	0.343000									Kartagener syndrome				8	56					0	0	0.000157383	0	0
FGD5	152273	broad.mit.edu	37	3	14964555	14964555	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:14964555C>T	ENST00000285046.5	+	16	3920	c.3810C>T	c.(3808-3810)atC>atT	p.I1270I	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.I1029I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1270					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCTGCAGATCGTGTGCCGGA	0.607000													15	55					0	0	0.000422831	0	0
DNAH11	8701	broad.mit.edu	37	7	21631164	21631164	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:21631164G>A	ENST00000328843.6	+	14	2667	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G879E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	879	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAATCCAAGGAGATGGCTGC	0.423000									Kartagener syndrome				19	57					0	0	0.000175454	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675119	40675119	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:40675119C>T	ENST00000416151.2	+	1	198	c.83C>T	c.(82-84)cCg>cTg	p.P28L	KNSTRN_ENST00000249776.8_Missense_Mutation_p.P28L|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P28L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CACCCACTTCCGCCTAGCTAC	0.567000													12	88					0	0	0.00010058	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702291	15702291	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:15702291G>A	ENST00000396368.3	-	21	4245	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1347F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1344F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1182F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L949F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1344F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1346						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGGACCGAAGGAGTTTAACA	0.413000													16	74					0	0	0.000958276	0	0
FBN3	84467	broad.mit.edu	37	19	8153023	8153023	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:8153023C>T	ENST00000600128.1	-	52	6831	c.6417G>A	c.(6415-6417)ggG>ggA	p.G2139G	FBN3_ENST00000601739.1_Silent_p.G2139G|FBN3_ENST00000270509.2_Silent_p.G2139G			Q75N90	FBN3_HUMAN	fibrillin 3	2139	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTGCATGTCCCTTGCCCAC	0.607000													13	66					0	0	0.000958276	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281609	71281609	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:71281609G>A	ENST00000335793.3	-	2	1425	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.S274F|CDC42EP4_ENST00000581014.1_Silent_p.L76L			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	344					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ATCCATGAAGGAGAACTCCTT	0.647000													15	120					0	0	0.000566183	0	0
BDP1	55814	broad.mit.edu	37	5	70806623	70806623	+	Missense_Mutation	SNP	C	C	T	rs5868598		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:70806623C>T	ENST00000358731.4	+	17	3967	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1235	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGAAATTTCCCAAAGGGAA	0.398000													13	47					0	0	0.00010058	0	0
POU6F1	5463	broad.mit.edu	37	12	51586221	51586221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:51586221G>A	ENST00000389243.4	-	9	1222	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	POU6F1_ENST00000550824.1_Nonsense_Mutation_p.Q95*|POU6F1_ENST00000333640.10_Nonsense_Mutation_p.Q95*			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	95	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						ACAGCAGGCTGGGGCACGGTT	0.602000													15	108					0	0	0.000566183	0	0
SP100	6672	broad.mit.edu	37	2	231331029	231331029	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:231331029C>T	ENST00000264052.5	+	12	1510	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	SP100_ENST00000409341.1_Silent_p.F385F|SP100_ENST00000409897.1_Silent_p.F350F|SP100_ENST00000409824.1_Silent_p.F360F|SP100_ENST00000340126.4_Silent_p.F385F|SP100_ENST00000341950.4_Silent_p.F385F|SP100_ENST00000427101.2_Silent_p.F360F|SP100_ENST00000409112.1_Silent_p.F385F	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	385					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCATGGATTTCAGAAAATTAT	0.338000													14	38					0	0	0.000308642	0	0
INSM1	3642	broad.mit.edu	37	20	20350318	20350318	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:20350318C>T	ENST00000310227.1	+	1	1554	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	469					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCCAGGTGTTCCCCTGCAAGT	0.662000													6	31					0	0	8.12818e-05	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													4	15					0	0	0.00024832	0	0
GFAP	2670	broad.mit.edu	37	17	42992741	42992741	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:42992741G>A	ENST00000253408.5	-	1	179	c.114C>T	c.(112-114)tcC>tcT	p.S38S	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.S38S|GFAP_ENST00000435360.2_Silent_p.S38S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	38	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S38F(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCGAGCCAGGGAGAGGCGGG	0.692000													17	19					0	0	0.000375601	0	0
CDH22	64405	broad.mit.edu	37	20	44869812	44869812	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:44869812C>T	ENST00000372262.3	-	2	740	c.340G>A	c.(340-342)Gag>Aag	p.E114K	CDH22_ENST00000537909.1_Missense_Mutation_p.E114K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	114	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGTCAGCTCGTCGATCAGG	0.622000													5	40					0	0	0.000602214	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922825	17922825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:17922825G>A	ENST00000318683.6	+	3	1160	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R338Q	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	338					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGCTTCTACCGAGACCTGCTG	0.612000													29	116					0	0	0.000227799	0	0
OR4D6	219983	broad.mit.edu	37	11	59224633	59224633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:59224633C>T	ENST00000300127.2	+	1	223	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CGGAACAAATCAGTCCTGGAC	0.468000													19	30					0	0	0.00074312	0	0
KCNB2	9312	broad.mit.edu	37	8	73480322	73480322	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:73480322C>T	ENST00000523207.1	+	2	941	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	118					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S118L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGTGCACTTTCGTTTGGCCAA	0.423000													17	21					0	0	0.00074312	0	0
ESPNP	284729	broad.mit.edu	37	1	17029294	17029294	+	RNA	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:17029294G>A	ENST00000492551.1	-	0	1071					NR_026567.1																						TTGGGAGATGGGTAGCTAggt	0.652000													6	47					0	0	8.12818e-05	0	0
ACSS3	79611	broad.mit.edu	37	12	81472039	81472039	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:81472039G>T	ENST00000548058.1	+	1	1050	c.140G>T	c.(139-141)gGg>gTg	p.G47V	ACSS3_ENST00000261206.3_Missense_Mutation_p.G47V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	47						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCGGTCTCGGGGGCCGGGGA	0.736000													5	3					3.59834e-05	0.000579191	3.59834e-05	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835175	12835175	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:12835175G>A	ENST00000357726.4	+	1	192	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	55										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACAACTATGGTGCAGGCCT	0.582000													11	78					0	0	6.40141e-05	0	0
DCAF11	80344	broad.mit.edu	37	14	24588419	24588419	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:24588419G>C	ENST00000446197.3	+	9	1572	c.845G>C	c.(844-846)gGa>gCa	p.G282A	DCAF11_ENST00000396936.1_Missense_Mutation_p.G182A|DCAF11_ENST00000396941.4_Missense_Mutation_p.G256A|DCAF11_ENST00000559115.1_Missense_Mutation_p.G282A	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	282						CUL4 RING ubiquitin ligase complex	protein binding										GAAGTACTAGGAGGGTAAGTG	0.507000													24	126					0	0	0.000586117	0	0
NUDT10	170685	broad.mit.edu	37	X	51076066	51076066	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:51076066C>T	ENST00000376006.3	+	2	469	c.249C>T	c.(247-249)ttC>ttT	p.F83F	NUDT10_ENST00000356450.2_Silent_p.F83F	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	83	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGGGCGTCTTCGAACAGAACC	0.617000													10	25					0	0	0.000673444	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227493	56227493	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:56227493G>A	ENST00000341744.3	-	4	799	c.480C>T	c.(478-480)ccC>ccT	p.P160P	PMEPA1_ENST00000395816.3_Silent_p.P110P|PMEPA1_ENST00000395814.1_Silent_p.P110P|PMEPA1_ENST00000347215.4_Silent_p.P125P|PMEPA1_ENST00000265626.4_Silent_p.P110P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	160					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGCCCTGGTAGGGTGGGGGCT	0.662000													5	44					0	0	0.000157383	0	0
SHH	6469	broad.mit.edu	37	7	155599242	155599242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:155599242C>T	ENST00000297261.2	-	2	460	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	104					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAACTTGTCCTTACACCTC	0.632000													11	52					0	0	0.000673444	0	0
GNPDA2	132789	broad.mit.edu	37	4	44724174	44724174	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:44724174G>A	ENST00000509756.1	-	2	157	c.51C>T	c.(49-51)gcC>gcT	p.A17A	GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000295448.3_Silent_p.A17A|GNPDA2_ENST00000507917.1_Silent_p.A17A|GNPDA2_ENST00000507534.1_Intron			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	17					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AGATGTATTTGGCTGCCCATT	0.388000													10	19					0	0	0.000673444	0	0
ZNF132	7691	broad.mit.edu	37	19	58946494	58946494	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:58946494G>T	ENST00000254166.3	-	3	717	c.317C>A	c.(316-318)gCa>gAa	p.A106E		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	106	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAAGGATCTGCATTAGGGAT	0.488000													22	142					2.48779e-11	4.04032e-10	0.000878237	1	0
DUSP22	56940	broad.mit.edu	37	6	348248	348248	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:348248G>A	ENST00000604971.1	+	3	1213	c.100G>A	c.(100-102)Gag>Aag	p.E34K	DUSP22_ENST00000605035.1_Missense_Mutation_p.E34K|DUSP22_ENST00000605315.1_Missense_Mutation_p.E34K|DUSP22_ENST00000603453.1_Missense_Mutation_p.E34K|DUSP22_ENST00000605863.1_Missense_Mutation_p.E34K|DUSP22_ENST00000419235.2_Missense_Mutation_p.E137K|DUSP22_ENST00000344450.5_Missense_Mutation_p.E137K			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	137					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		ACAGCTCCAGGAGTTTGAGAA	0.577000													6	109					0	0	3.59834e-05	0	0
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:29323094C>T	ENST00000377154.1	-	4	1178	c.879G>A	c.(877-879)agG>agA	p.R293R	OR5V1_ENST00000543825.1_Silent_p.R293R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293R(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403000													8	26					0	0	0.000442599	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022462	161022462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:161022462G>A	ENST00000368013.3	-	7	1110	c.790C>T	c.(790-792)Cca>Tca	p.P264S	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P87S|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P264S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGCATCTGTGGGGGTCCATCG	0.602000													19	49					0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76471509	76471509	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:76471509G>A	ENST00000389840.5	-	54	8444	c.8320C>T	c.(8320-8322)Cgc>Tgc	p.R2774C	DNAH17_ENST00000585328.1_Missense_Mutation_p.R2783C|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCAGGATGCGATTAATCCTG	0.602000													57	49					0	0	0.000781405	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323178	136323178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:136323178G>A	ENST00000371929.3	+	28	4483	c.4039G>A	c.(4039-4041)Ggc>Agc	p.G1347S	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1260S|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1291S|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.G143S	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1347	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACCAACATGGGCGCTGGGAC	0.617000													7	33					0	0	8.12818e-05	0	0
RPL32P3	132241	broad.mit.edu	37	3	129115100	129115100	+	RNA	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:129115100G>A	ENST00000514355.1	-	0	513																				lung(1)	1						TTGACATTGTGGACCAGGAAC	0.458000													5	35					0	0	0.000602214	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049157	42049157	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:42049157G>T	ENST00000372584.1	-	3	2326	c.1312C>A	c.(1312-1314)Cag>Aag	p.Q438K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q438K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q438K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Q438K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	438	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGAGGGGCTGGGTGGAGGTG	0.607000													11	59					4.36969e-10	7.07124e-09	0.000151284	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47123702	47123702	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:47123702C>T	ENST00000290341.3	+	14	1942	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	IGF2BP1_ENST00000431824.2_Silent_p.I397I	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	536	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACCAGGTCATCGTGAAAATCA	0.552000													6	46					0	0	8.12818e-05	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086700	39086700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:39086700G>A	ENST00000400482.3	-	3	1349	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.P254S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	254					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGGTTCAACGGGATGAACTCC	0.502000													16	76					0	0	0.000308642	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206073	74206073	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:74206073G>A	ENST00000286523.5	-	2	1421	c.639C>T	c.(637-639)ccC>ccT	p.P213P	ELMSAN1_ENST00000394071.2_Silent_p.P213P	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		AGGGTTGCAGGGGCAGTGACT	0.642000													11	88					0	0	6.40141e-05	0	0
WASF3	10810	broad.mit.edu	37	13	27241676	27241676	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:27241676G>A	ENST00000361042.4	+	5	516	c.291G>A	c.(289-291)atG>atA	p.M97I	WASF3_ENST00000335327.5_Missense_Mutation_p.M97I|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	97					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATATCAACATGAAAAAAGCTT	0.348000													7	53					0	0	0.000442599	0	0
ZNF454	285676	broad.mit.edu	37	5	178373936	178373936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:178373936G>A	ENST00000320129.3	+	4	502	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ZNF454_ENST00000519564.1_Missense_Mutation_p.E67K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTCCCAGCTAGAAAAAAGGGA	0.483000													23	124					0	0	0.000184323	0	0
KANSL1	284058	broad.mit.edu	37	17	44108899	44108899	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:44108899G>A	ENST00000262419.6	-	15	3731	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	KANSL1_ENST00000432791.1_Silent_p.P1087P|KANSL1_ENST00000393476.3_Silent_p.P381P|KANSL1_ENST00000575318.1_Silent_p.P1023P|KANSL1_ENST00000574590.1_Silent_p.P1087P|KANSL1_ENST00000572904.1_Silent_p.P1087P	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	1087						MLL1 complex	protein binding										GACTCTTGAGGGGGACAATGG	0.617000													5	50					0	0	8.12818e-05	0	0
ATN1	1822	broad.mit.edu	37	12	7048061	7048061	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:7048061C>T	ENST00000356654.4	+	7	3172	c.2935C>T	c.(2935-2937)Ctg>Ttg	p.L979L	ATN1_ENST00000396684.2_Silent_p.L979L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	979					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCTGGCTCTGCAGCCTGG	0.672000													12	74					0	0	0.000219431	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997307	82997307	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:82997307G>A	ENST00000307792.3	-	17	2390	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	SEMA3E_ENST00000427262.1_Silent_p.F581F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	641	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTAACCTTAGGAAGAGTAAAC	0.418000													6	40					0	0	0.000274275	0	0
USP18	11274	broad.mit.edu	37	22	18642943	18642943	+	Silent	SNP	G	G	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:18642943G>T	ENST00000215794.7	+	3	592	c.162G>T	c.(160-162)ctG>ctT	p.L54L		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	54					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TTATAGGCCTGGTTGGTTTAC	0.463000													7	196					0.000442599	0.00709885	0.000442599	1	0
KRT36	8689	broad.mit.edu	37	17	39646023	39646023	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:39646023G>A	ENST00000328119.6	-	1	93	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	32	Head.					intermediate filament	protein binding|structural constituent of epidermis	p.R32C(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCACAGAACGGATGGAGGAC	0.637000													8	46					0	0	0.000157383	0	0
ANK2	287	broad.mit.edu	37	4	114294472	114294472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:114294472C>T	ENST00000357077.4	+	45	11779	c.11726C>T	c.(11725-11727)tCc>tTc	p.S3909F	ANK2_ENST00000510275.2_Missense_Mutation_p.S507F|ANK2_ENST00000264366.6_Missense_Mutation_p.S3876F|ANK2_ENST00000509550.1_Missense_Mutation_p.S1000F|ANK2_ENST00000394537.3_Missense_Mutation_p.S1824F|ANK2_ENST00000506722.1_Missense_Mutation_p.S1815F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3876					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGTATGTATCCTCTGAAGGC	0.383000													9	19					0	0	6.40141e-05	0	0
SHH	6469	broad.mit.edu	37	7	155599243	155599243	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:155599243C>T	ENST00000297261.2	-	2	459	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	103					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAACTTGTCCTTACACCTCT	0.637000													12	48					0	0	6.40141e-05	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415711	105415711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:105415711G>A	ENST00000333244.5	-	7	6196	c.6077C>T	c.(6076-6078)tCc>tTc	p.S2026F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2026						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGACT	0.642000													38	164					0	0	0.000814825	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821446	100821446	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:100821446G>A	ENST00000268070.4	-	4	882	c.777C>T	c.(775-777)acC>acT	p.T259T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	259	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGTTCATGACGGTCAGGATGA	0.627000													10	104					0	0	6.40141e-05	0	0
APOB	338	broad.mit.edu	37	2	21247901	21247901	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:21247901C>T	ENST00000233242.1	-	16	2467	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L	APOB_ENST00000399256.4_Silent_p.L780L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	780					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCCTCTCCCAAGATGCGGA	0.512000													32	173					0	0	0.000491102	0	0
RERE	473	broad.mit.edu	37	1	8418267	8418267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:8418267G>A	ENST00000337907.3	-	21	4962	c.4328C>T	c.(4327-4329)cCc>cTc	p.P1443L	RERE_ENST00000377464.1_Missense_Mutation_p.P1175L|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P889L|RERE_ENST00000400908.2_Missense_Mutation_p.P1443L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1443	His-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		Ttggtggagggggtcctgctg	0.632000													4	25					0	0	0.00024832	0	0
SMARCC1	6599	broad.mit.edu	37	3	47730890	47730890	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:47730890G>A	ENST00000254480.5	-	13	1369	c.1250C>T	c.(1249-1251)aCa>aTa	p.T417I	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	417					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTCCTGCTGTGACTGTTTC	0.398000													11	31					0	0	0.000151284	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227798	44227798	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:44227798G>A	ENST00000275015.5	-	5	1418	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	473					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGGTCCTGGGGCGTCTCAT	0.597000													11	37					0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9062451	9062451	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:9062451C>T	ENST00000397910.4	-	3	25198	c.24995G>A	c.(24994-24996)aGa>aAa	p.R8332K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8334	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGTCAGTCTCTCATGGGA	0.498000													14	49					0	0	0.000958276	0	0
TMC7	79905	broad.mit.edu	37	16	19051753	19051753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:19051753G>A	ENST00000421369.3	+	9	1550	c.992G>A	c.(991-993)cGt>cAt	p.R331H	TMC7_ENST00000569532.1_Missense_Mutation_p.R441H|TMC7_ENST00000304381.5_Missense_Mutation_p.R441H	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	441						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTGAGATCCGTCTGACAATC	0.468000													29	76					0	0	0.000184323	0	0
PRR5L	79899	broad.mit.edu	37	11	36424900	36424900	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:36424900G>A	ENST00000378867.3	+	4	572	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PRR5L_ENST00000530639.1_Missense_Mutation_p.E73K|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.E73K|PRR5L_ENST00000311599.5_Missense_Mutation_p.E47K	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	73										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GCAAAGCAACGAGCTCTATGC	0.507000													16	34					0	0	0.00074312	0	0
CILP2	148113	broad.mit.edu	37	19	19654772	19654772	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:19654772G>A	ENST00000586018.1	+	8	1538	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	CILP2_ENST00000291495.4_Missense_Mutation_p.G473E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	473						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCCCTCGGGGGCTGGTCCGG	0.667000													4	26					0	0	0.000602214	0	0
XPO6	23214	broad.mit.edu	37	16	28117463	28117463	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:28117463G>A	ENST00000304658.5	-	20	3185	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	XPO6_ENST00000565698.1_Silent_p.I881I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	895					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CCACCTGCAGGATCTTCAGAA	0.592000													21	49					0	0	0.000229342	0	0
MDH1B	130752	broad.mit.edu	37	2	207629981	207629981	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:207629981G>A	ENST00000374412.3	-	1	290	c.15C>T	c.(13-15)gtC>gtT	p.V5V	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Silent_p.V5V|MDH1B_ENST00000392214.2_Silent_p.V5V	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	5					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CACCCGCGATGACGAATTTGG	0.637000													13	79					0	0	0.000219431	0	0
MIOS	54468	broad.mit.edu	37	7	7628179	7628179	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:7628179C>T	ENST00000340080.4	+	8	2290	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	MIOS_ENST00000405785.1_Silent_p.F623F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	623										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTAAATTCCTTAGTGATA	0.328000													18	13					0	0	0.000295444	0	0
RNPEP	6051	broad.mit.edu	37	1	201970810	201970810	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:201970810C>T	ENST00000295640.4	+	8	1384	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.F408F|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	447					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		AATTCAAATTCCGAAGCATCT	0.493000													54	244					0	0	0.000781405	0	0
CLEC4C	170482	broad.mit.edu	37	12	7894077	7894077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:7894077G>A	ENST00000542353.1	-	4	665	c.175C>T	c.(175-177)Cga>Tga	p.R59*	CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.R28*|CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.R59*|CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.R28*	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	59					innate immune response	integral to membrane	sugar binding	p.R59*(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TGATACTCTCGTAACTTGGAC	0.423000													37	149					0	0	0.000589545	0	0
ITGA1	3672	broad.mit.edu	37	5	52229798	52229798	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:52229798T>C	ENST00000282588.6	+	23	3394	c.2936T>C	c.(2935-2937)aTt>aCt	p.I979T	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	979					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACTGAGGACATTGGAAATGAA	0.274000													6	45					0	0	3.59834e-05	0	0
NEBL	10529	broad.mit.edu	37	10	21074740	21074740	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:21074740C>T	ENST00000377122.4	-	28	3377	c.2981G>A	c.(2980-2982)gGc>gAc	p.G994D	NEBL_ENST00000377159.4_Missense_Mutation_p.G216D|NEBL_ENST00000417816.2_Missense_Mutation_p.G250D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	994	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGCACTGTGCCGTACATCCA	0.468000													4	13					0	0	0.00024832	0	0
FAM151A	338094	broad.mit.edu	37	1	55075104	55075104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:55075104G>A	ENST00000302250.2	-	8	1755	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S345F|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	532						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCCGGGGGGAGGATGCCAG	0.647000													21	70					0	0	0.000229342	0	0
CCDC40	55036	broad.mit.edu	37	17	78022387	78022387	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:78022387C>T	ENST00000397545.4	+	5	709	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	CCDC40_ENST00000374876.4_Missense_Mutation_p.P228S|CCDC40_ENST00000269318.5_Missense_Mutation_p.P228S|CCDC40_ENST00000374877.3_Missense_Mutation_p.P228S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	228					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCAGTGATCCCCCCAGGGGT	0.627000													31	24					0	0	0.000409698	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734769	16734769	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:16734769C>T	ENST00000579062.1	-	0	546																											TTCAGGCCTTCCATCTGCATC	0.632000													7	50					0	0	0.000442599	0	0
MAP1A	4130	broad.mit.edu	37	15	43813623	43813623	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:43813623C>T	ENST00000382031.1	+	5	697	c.666C>T	c.(664-666)tcC>tcT	p.S222S	MAP1A_ENST00000300231.5_5'UTR|MAP1A_ENST00000399453.1_5'UTR			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	0						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TATCCAGTTCCCAAGAGACCC	0.567000													9	46					0	0	0.000442599	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238113	1238113	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:1238113C>T	ENST00000324642.3	+	5	793	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	SLC6A18_ENST00000296821.4_Missense_Mutation_p.L224F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	224					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACCATCTTTCTCATCAGAGG	0.493000													22	92					0	0	0.000147802	0	0
DNMBP	23268	broad.mit.edu	37	10	101646231	101646231	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:101646231C>T	ENST00000342239.3	-	13	3607	c.3516G>A	c.(3514-3516)gaG>gaA	p.E1172E	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Silent_p.E1148E|DNMBP_ENST00000540316.1_Silent_p.E84E|DNMBP_ENST00000543621.1_Silent_p.E394E			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1148	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACTGCAGCTCCTCCAGGGTCT	0.547000													11	78					0	0	6.40141e-05	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878803	31878803	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:31878803G>A	ENST00000253354.1	+	5	567	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	136						extracellular space	lipid binding										CATGACGACTGAGGCCCAAGC	0.637000													6	32					0	0	3.59834e-05	0	0
TYMS	7298	broad.mit.edu	37	18	672884	672884	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:672884C>G	ENST00000323274.10	+	7	968	c.829C>G	c.(829-831)Cca>Gca	p.P277A	TYMS_ENST00000323224.7_Missense_Mutation_p.P243A|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.P194A|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	277					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CAGACCTTTCCCAAAGCTCAG	0.388000													10	88					0	0	6.40141e-05	0	0
FILIP1	27145	broad.mit.edu	37	6	76024012	76024012	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:76024012C>T	ENST00000393004.2	-	5	1757	c.1536G>A	c.(1534-1536)agG>agA	p.R512R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.R512R|FILIP1_ENST00000370020.1_Silent_p.R413R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	512								p.R512R(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCATATTTTTCCTTTCATCAA	0.323000													8	34					0	0	0.000157383	0	0
FGA	2243	broad.mit.edu	37	4	155507125	155507125	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:155507125C>T	ENST00000302053.3	-	5	1534	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	FGA_ENST00000403106.3_Missense_Mutation_p.E486K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	486					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E486K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAACCATCTTCGGAGGTCACC	0.493000													6	26					0	0	3.59834e-05	0	0
PARP4	143	broad.mit.edu	37	13	25029201	25029201	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:25029201G>A	ENST00000381989.3	-	22	2817	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	904	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCCACCAAGGACAGCGCAT	0.507000													33	213					0	0	0.000953801	0	0
CPNE5	57699	broad.mit.edu	37	6	36711495	36711495	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:36711495C>T	ENST00000244751.2	-	20	2158	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R	CPNE5_ENST00000393189.2_Missense_Mutation_p.G220R|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	512	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGCTTCCCCCGGGAGGAG	0.657000													16	99					0	0	0.00074312	0	0
HCN2	610	broad.mit.edu	37	19	603747	603747	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:603747C>T	ENST00000251287.2	+	2	889	c.836C>T	c.(835-837)cCc>cTc	p.P279L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	279					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTGGACCCCGAGAAGATC	0.537000													13	51					0	0	0.000308642	0	0
SKOR1	390598	broad.mit.edu	37	15	68123199	68123199	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:68123199G>A	ENST00000380035.2	+	5	2617	c.2559G>A	c.(2557-2559)gtG>gtA	p.V853V	SKOR1_ENST00000554240.1_Silent_p.V814V|SKOR1_ENST00000554054.1_Silent_p.V825V|SKOR1_ENST00000389002.1_Silent_p.V809V|SKOR1_ENST00000341418.5_Silent_p.V756V			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	853					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTCATTTGGTGGAGAAAGATA	0.502000													28	219					0	0	0.000227799	0	0
IFNAR2	3455	broad.mit.edu	37	21	34617307	34617307	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr21:34617307C>T	ENST00000404220.3	+	4	478	c.149C>T	c.(148-150)tCc>tTc	p.S50F	IFNAR2_ENST00000342136.4_Missense_Mutation_p.S50F|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S50F|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S50F|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S50F			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	50					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATTTCCGGTCCATCTTATCA	0.353000													13	91					0	0	0.000219431	0	0
COPA	1314	broad.mit.edu	37	1	160275485	160275485	+	Silent	SNP	G	G	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:160275485G>C	ENST00000241704.7	-	16	1750	c.1521C>G	c.(1519-1521)gcC>gcG	p.A507A	COPA_ENST00000368069.3_Silent_p.A507A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	507					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCGTGTTTGGCTAGTAGTG	0.458000													20	106					0	0	0.000375601	0	0
MYH11	4629	broad.mit.edu	37	16	15815452	15815452	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:15815452C>T	ENST00000338282.6	-	32	4511	c.4405G>A	c.(4405-4407)Gat>Aat	p.D1469N	MYH11_ENST00000576790.1_Missense_Mutation_p.D1469N|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.D1469N|MYH11_ENST00000452625.2_Missense_Mutation_p.D1476N|MYH11_ENST00000396324.3_Missense_Mutation_p.D1476N|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1469					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCCTCTCATCCGCGTATTTG	0.537000			T	CBFB	AML								8	56					0	0	0.000442599	0	0
NACA	4666	broad.mit.edu	37	12	57113173	57113173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:57113173G>A	ENST00000454682.1	-	3	2422	c.2141C>T	c.(2140-2142)cCc>cTc	p.P714L	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTATTCTGGGGGGATGGAGC	0.527000			T	BCL6	NHL								8	16					0	0	0.000442599	0	0
SPINK13	153218	broad.mit.edu	37	5	147653946	147653946	+	Splice_Site	SNP	A	A	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:147653946A>C	ENST00000512953.1	+	4	638	c.108_splice	c.e4+1	p.K36_splice	SPINK13_ENST00000398450.4_Splice_Site_p.K36_splice|SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	36	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						AGGTGGCCTAAGGTAAATTTA	0.363000													21	111					0	0	0.000720815	0	0
KDM5C	8242	broad.mit.edu	37	X	53245345	53245345	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:53245345G>A	ENST00000452825.3	-	4	1023	c.491C>T	c.(490-492)cCa>cTa	p.P164L	KDM5C_ENST00000375379.3_Missense_Mutation_p.P231L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P190L|KDM5C_ENST00000404049.3_Missense_Mutation_p.P230L|KDM5C_ENST00000375401.3_Missense_Mutation_p.P231L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	231	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTTCAGCTCTGGATTCTTCTC	0.502000			"""N, F, S"""		clear cell renal carcinoma								12	54					0	0	0.000422831	0	0
MRPL38	64978	broad.mit.edu	37	17	73898149	73898149	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:73898149C>T	ENST00000309352.3	-	3	871	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	112						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCGAAGCTCCTGGATGGCC	0.597000													23	14					0	0	0.000720815	0	0
C20orf197	284756	broad.mit.edu	37	20	58645066	58645066	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:58645066G>A	ENST00000313426.1	+	3	343	c.37G>A	c.(37-39)Gca>Aca	p.A13T		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	13										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			TTATTGGCAGGCAGACGGCTA	0.567000													8	68					0	0	0.000274275	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661510	77661510	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:77661510G>A	ENST00000296043.6	+	5	3137	c.2184G>A	c.(2182-2184)agG>agA	p.R728R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	728					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCGAGGGGAGGACCGGTGCCT	0.677000													15	77					0	0	0.000308642	0	0
EOMES	8320	broad.mit.edu	37	3	27760228	27760228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:27760228C>T	ENST00000295743.4	-	4	1518	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	EOMES_ENST00000537516.1_Missense_Mutation_p.D144N|EOMES_ENST00000449599.1_Missense_Mutation_p.D439N			O95936	EOMES_HUMAN	eomesodermin	439					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACACTCACATCGGTGTTTTGG	0.438000													22	149					0	0	0.000586117	0	0
OSCP1	127700	broad.mit.edu	37	1	36887763	36887763	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:36887763G>A	ENST00000356637.5	-	8	900	c.837C>T	c.(835-837)gcC>gcT	p.A279A	OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Silent_p.A269A|OSCP1_ENST00000433045.2_Silent_p.A224A|OSCP1_ENST00000315643.9_Silent_p.A279A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	279					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GGGTCCATGAGGCTAAGTTCT	0.473000													14	80					0	0	0.000308642	0	0
OTOGL	283310	broad.mit.edu	37	12	80750683	80750683	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:80750683C>T	ENST00000458043.2	+	48	5987	c.5981C>T	c.(5980-5982)tCc>tTc	p.S1994F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1982F|OTOGL_ENST00000546620.1_Missense_Mutation_p.S13F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTTGTTTTTCCCCTTTTTGT	0.368000													5	11					0	0	0.000602214	0	0
RASIP1	54922	broad.mit.edu	37	19	49243482	49243482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:49243482G>A	ENST00000222145.4	-	2	262	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	20					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCCCACGGGGAGATGAAGC	0.637000													12	48					0	0	0.000151284	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447594	96447594	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:96447594G>A	ENST00000285979.6	+	2	435	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C18_ENST00000339022.5_Missense_Mutation_p.G79E	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.G79V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTGTTGCATGGATATGAAGCA	0.423000													4	23					0	0	3.59834e-05	0	0
KRT12	3859	broad.mit.edu	37	17	39021204	39021204	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:39021204C>T	ENST00000251643.4	-	3	684	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	221	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGGGCCAGTTCATTCTCATAC	0.537000													6	40					0	0	8.12818e-05	0	0
ZNF683	257101	broad.mit.edu	37	1	26691131	26691131	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:26691131G>A	ENST00000436292.1	-	4	1026	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ZNF683_ENST00000403843.1_Silent_p.S302S|ZNF683_ENST00000349618.3_Silent_p.S302S|ZNF683_ENST00000374204.1_Silent_p.S302S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGCCTGTCTGGGAACTCAATG	0.587000													66	139					0	0	0.000781405	0	0
GRB10	2887	broad.mit.edu	37	7	50682476	50682476	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:50682476G>A	ENST00000403097.1	-	11	1848	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	GRB10_ENST00000402497.1_Silent_p.L304L|GRB10_ENST00000402578.1_Silent_p.L304L|GRB10_ENST00000398812.2_Silent_p.L362L|GRB10_ENST00000357271.5_Silent_p.L316L|GRB10_ENST00000401949.1_Silent_p.L362L|GRB10_ENST00000335866.3_Silent_p.L304L|GRB10_ENST00000439599.1_Silent_p.L356L|GRB10_ENST00000398810.2_Silent_p.L304L|GRB10_ENST00000407526.1_Silent_p.L304L|GRB10_ENST00000406641.1_Silent_p.L304L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	362	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCTTTATGCAGAGCCCGTGGT	0.582000									Russell-Silver syndrome				18	141					0	0	0.000229342	0	0
XIST	7503	broad.mit.edu	37	X	73065144	73065144	+	RNA	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:73065144G>A	ENST00000429829.1	-	0	7444					NR_001564.2																						CCAGGAAAAGGGGCCTTGGTG	0.493000													16	32					0	0	0.000566183	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475930	89475930	+	RNA	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:89475930G>A	ENST00000484817.1	-	0	271																											TGGGACCCCAGAGAACCGGTT	0.507000													12	55					0	0	0.000308642	0	0
FAM83B	222584	broad.mit.edu	37	6	54805985	54805985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:54805985C>T	ENST00000306858.7	+	5	2332	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	739										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAATCAGTTTCCATTGCTGCT	0.398000													5	7					0	0	3.59834e-05	0	0
ROBO3	64221	broad.mit.edu	37	11	124740156	124740156	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:124740156C>T	ENST00000397801.1	+	5	1054	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ROBO3_ENST00000538940.1_Missense_Mutation_p.R266C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	288	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCCCCACCTCGTCTACGCTG	0.582000													12	23					0	0	6.40141e-05	0	0
MYB	4602	broad.mit.edu	37	6	135507108	135507108	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:135507108C>T	ENST00000341911.5	+	2	290	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	MYB_ENST00000525369.1_Missense_Mutation_p.P31S|MYB_ENST00000534044.1_Missense_Mutation_p.P31S|MYB_ENST00000527615.1_Missense_Mutation_p.P31S|MYB_ENST00000316528.8_Missense_Mutation_p.P31S|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.P31S|MYB_ENST00000442647.2_Missense_Mutation_p.P31S|MYB_ENST00000367814.4_Missense_Mutation_p.P31S|MYB_ENST00000420123.2_Missense_Mutation_p.P31S|MYB_ENST00000533624.1_Missense_Mutation_p.P31S|MYB_ENST00000534121.1_Missense_Mutation_p.P31S	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	31					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGGGCTGCTTCCCAAGTCTGG	0.438000			T	NFIB	adenoid cystic carcinoma								10	29					0	0	0.000673444	0	0
DLK2	65989	broad.mit.edu	37	6	43420853	43420853	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:43420853C>T	ENST00000357338.3	-	4	861	c.161G>A	c.(160-162)gGg>gAg	p.G54E	DLK2_ENST00000414245.1_Missense_Mutation_p.G54E|DLK2_ENST00000372485.1_Missense_Mutation_p.G54E|DLK2_ENST00000372488.3_Missense_Mutation_p.G54E	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	54	EGF-like 1.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGTGCAGCCCCTCCCAGCC	0.612000													4	21					0	0	0.00024832	0	0
MYO18B	84700	broad.mit.edu	37	22	26423473	26423473	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr22:26423473C>T	ENST00000335473.7	+	43	7783	c.7533C>T	c.(7531-7533)tcC>tcT	p.S2511S	MYO18B_ENST00000536101.1_Silent_p.S2511S|MYO18B_ENST00000407587.2_Silent_p.S2512S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2511	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGTCCTCATCCTCCGGCTCCA	0.577000													19	21					0	0	0.000175454	0	0
CACNA1E	777	broad.mit.edu	37	1	181765861	181765861	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:181765861G>A	ENST00000526775.1	+	45	6245	c.6080G>A	c.(6079-6081)cGa>cAa	p.R2027Q	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1978Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2070Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2046Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1653Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2089Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2040Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2089					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2089Q(1)|p.R2046Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAAAAGAGCGAAAGCATCTT	0.572000													19	33					0	0	0.000229342	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493169	101493169	+	RNA	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:101493169G>A	ENST00000385028.1	+	0	48					NR_029967.1																						TAATGAGGACGAAACACACCT	0.468000													20	108					0	0	0.00047179	0	0
ITGB8	3696	broad.mit.edu	37	7	20418758	20418758	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:20418758C>T	ENST00000222573.3	+	4	1157	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ITGB8_ENST00000537992.1_Missense_Mutation_p.S23L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	158	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTCTCAGCATCAATGCACAAT	0.348000													13	94					0	0	0.00010058	0	0
CCPG1	9236	broad.mit.edu	37	15	55657426	55657426	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:55657426G>A	ENST00000310958.6	-	7	1086	c.788C>T	c.(787-789)tCc>tTc	p.S263F	CCPG1_ENST00000442196.3_Missense_Mutation_p.S263F|CCPG1_ENST00000569205.1_Missense_Mutation_p.S263F|CCPG1_ENST00000425574.3_Missense_Mutation_p.S263F|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	263	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTGACACTGGGAAAGATAATC	0.274000													17	151					0	0	0.000132079	0	0
ZEB1	6935	broad.mit.edu	37	10	31799743	31799743	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:31799743C>T	ENST00000446923.2	+	5	967	c.576C>T	c.(574-576)acC>acT	p.T192T	ZEB1_ENST00000542815.3_Silent_p.T141T|ZEB1_ENST00000560721.2_Silent_p.T188T|ZEB1_ENST00000361642.5_Silent_p.T209T|ZEB1_ENST00000320985.10_Silent_p.T208T|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	208					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAGTTACACCTTTGCATACA	0.378000													4	19					0	0	0.00024832	0	0
TMEM248	55069	broad.mit.edu	37	7	66406954	66406954	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:66406954C>T	ENST00000341567.4	+	2	357	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_017994.4	NP_060464.1			transmembrane protein 248																		CCATAGCTTTCCTGACCCTGG	0.527000													11	96					0	0	0.00010058	0	0
NLRP8	126205	broad.mit.edu	37	19	56459545	56459545	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:56459545C>T	ENST00000291971.3	+	1	348	c.277C>T	c.(277-279)Cct>Tct	p.P93S	NLRP8_ENST00000590542.1_Missense_Mutation_p.P93S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	93	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGCGTTTCCCTGGACGACG	0.507000													6	29					0	0	3.59834e-05	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	82					0	0	0.000602214	0	0
PTPRD	5789	broad.mit.edu	37	9	8504363	8504363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:8504363C>T	ENST00000381196.4	-	20	2263	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	PTPRD_ENST00000397606.3_Missense_Mutation_p.G564R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G574R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G574R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G574R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G561R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G564R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G571R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G561R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G571R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G574R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	574	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G574*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTTTCAGTCCTTGCAGCCTA	0.443000										TSP Lung(15;0.13)			9	50					0	0	0.000151284	0	0
DDX51	317781	broad.mit.edu	37	12	132624716	132624716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:132624716C>T	ENST00000397333.3	-	12	1740	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	568	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		ACGTCGATGCCTCGCGCGGTG	0.711000													13	39					0	0	0.000219431	0	0
EFNB3	1949	broad.mit.edu	37	17	7608943	7608943	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:7608943G>A	ENST00000226091.2	+	1	424	c.27G>A	c.(25-27)ggG>ggA	p.G9G		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	9					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGGGCCGGGGGGCGTGCGAG	0.711000													9	12					0	0	0.000442599	0	0
TRPV5	56302	broad.mit.edu	37	7	142612196	142612196	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:142612196A>C	ENST00000265310.1	-	11	1655	c.1307T>G	c.(1306-1308)gTg>gGg	p.V436G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	436					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGTCACCAGCACCAGGGAGGC	0.557000													8	9					0	0	0.000157383	0	0
KCNN2	3781	broad.mit.edu	37	5	113740249	113740249	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:113740249T>C	ENST00000512097.3	+	4	1715	c.697T>C	c.(697-699)Tat>Cat	p.Y233H	KCNN2_ENST00000264773.3_Missense_Mutation_p.Y233H|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	233						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACCTGGGAATTATACATTCAC	0.438000													7	33					0	0	0.000673444	0	0
FBLN2	2199	broad.mit.edu	37	3	13669404	13669404	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:13669404T>G	ENST00000404922.3	+	11	2623	c.2504T>G	c.(2503-2505)tTc>tGc	p.F835C	FBLN2_ENST00000492059.1_Missense_Mutation_p.F835C|FBLN2_ENST00000295760.7_Missense_Mutation_p.F788C|FBLN2_ENST00000535798.1_Missense_Mutation_p.F814C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	834	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AAGGGCTCCTTCTACTGCCAG	0.642000													8	63					0	0	0.000157383	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847972	47847972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:47847972C>T	ENST00000289672.2	-	52	7750	c.7700G>A	c.(7699-7701)gGa>gAa	p.G2567E	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2567					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGGCTCACTCCAACCACGGA	0.522000													9	53					0	0	0.000151284	0	0
PBX2	5089	broad.mit.edu	37	6	32155893	32155893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:32155893C>T	ENST00000375050.4	-	4	854	c.584G>A	c.(583-585)aGg>aAg	p.R195K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	195							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCTCTGCTCCCTCAGCAGGTT	0.587000													42	218					0	0	0.000781405	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373960	86373960	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:86373960G>A	ENST00000604798.1	-	8	1748	c.544C>T	c.(544-546)Cta>Tta	p.L182L	MGAT4C_ENST00000332156.1_Silent_p.L182L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Silent_p.L211L|MGAT4C_ENST00000548651.1_Silent_p.L182L|MGAT4C_ENST00000549405.2_Silent_p.L182L|MGAT4C_ENST00000552808.2_Silent_p.L182L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	182					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGCCATCTAGGATTGGGTAA	0.373000													6	16					0	0	3.59834e-05	0	0
NUBP2	10101	broad.mit.edu	37	16	1836596	1836596	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:1836596C>T	ENST00000262302.9	+	2	195	c.75C>T	c.(73-75)ggC>ggT	p.G25G	NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000565134.1_Silent_p.G25G|NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000543305.1_5'UTR	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	25						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAAGGGGGGCGTTGGGAAAA	0.662000													10	64					0	0	6.40141e-05	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287299	35287299	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:35287299C>T	ENST00000278379.3	-	10	1710	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SLC1A2_ENST00000395750.1_Silent_p.R467R|SLC1A2_ENST00000395753.1_Silent_p.R467R|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000606205.1_Silent_p.R476R	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	476					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AAGTTCTCATCCTGTCCCTGG	0.488000													16	23					0	0	0.000422831	0	0
EPHA8	2046	broad.mit.edu	37	1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGAGCGGCGGGATGCCTGT	0.677000													7	28					0	0	0.000157383	0	0
COL22A1	169044	broad.mit.edu	37	8	139734322	139734322	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:139734322C>T	ENST00000303045.6	-	26	2704	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G753E|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	753	Collagen-like 5.|Gly-rich.|Pro-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).	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)			CCCGTCCTTTCCAGGGGGTCC	0.478000										HNSCC(7;0.00092)			3	9					0	0	0.00024832	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513367	89513367	+	RNA	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:89513367G>A	ENST00000498435.1	-	0	46																											AGCTGAGCAGGGACCCTCATG	0.522000													15	29					0	0	0.000308642	0	0
BRINP3	339479	broad.mit.edu	37	1	190067904	190067904	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:190067904G>A	ENST00000367462.3	-	8	1776	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	FAM5C_ENST00000534846.1_Silent_p.I413I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		515						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTCATTGCTGATAAAAATGG	0.453000													58	117					0	0	0.000781405	0	0
POLD1	5424	broad.mit.edu	37	19	50906833	50906833	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:50906833C>T	ENST00000440232.2	+	10	1274	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	POLD1_ENST00000595904.1_Silent_p.I407I|POLD1_ENST00000599857.1_Silent_p.I407I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	407					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGTACCTCATCTCTCGGGCCC	0.637000								DNA polymerases (catalytic subunits)					30	71					0	0	0.000409698	0	0
OR8K5	219453	broad.mit.edu	37	11	55927077	55927077	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:55927077G>A	ENST00000313447.1	-	1	716	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AACCACATGTGGAGAAAGCCT	0.408000													3	6					0	0	0.00024832	0	0
OSBPL7	114881	broad.mit.edu	37	17	45892594	45892594	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:45892594G>A	ENST00000007414.3	-	13	1435	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S415F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	415					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ATTCTCAGAAGAGCTGGCGGA	0.602000													4	31					0	0	0.000602214	0	0
TRIP12	9320	broad.mit.edu	37	2	230636271	230636271	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:230636271G>A	ENST00000283943.5	-	38	5725	c.5547C>T	c.(5545-5547)ttC>ttT	p.F1849F	TRIP12_ENST00000389044.4_Silent_p.F1897F|TRIP12_ENST00000389045.3_Silent_p.F1579F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1849					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)		GACTGAGTGGGAAGACTGATT	0.383000													11	26					0	0	0.000219431	0	0
PLA2G16	11145	broad.mit.edu	37	11	63365622	63365622	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:63365622G>A	ENST00000323646.5	-	2	383	c.29C>T	c.(28-30)cCt>cTt	p.P10L	PLA2G16_ENST00000394613.3_Intron|PLA2G16_ENST00000415826.1_Missense_Mutation_p.P10L	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	10					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						CAGGTCTCCAGGCTTAGGCTC	0.522000													12	12					0	0	0.00010058	0	0
OTOA	146183	broad.mit.edu	37	16	21728346	21728346	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:21728346A>T	ENST00000388958.3	+	14	1608	c.1607A>T	c.(1606-1608)gAt>gTt	p.D536V	OTOA_ENST00000388957.3_Missense_Mutation_p.D212V|OTOA_ENST00000286149.4_Missense_Mutation_p.D550V|OTOA_ENST00000388956.4_Missense_Mutation_p.D457V	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	550					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTCCTGAAGGATAAGGAACTT	0.433000													8	61					0	0	0.000673444	0	0
DNAH10	196385	broad.mit.edu	37	12	124350537	124350537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:124350537C>T	ENST00000409039.3	+	40	6755	c.6730C>T	c.(6730-6732)Cga>Tga	p.R2244*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2244	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTGTCTCTCGATGTGGAAT	0.338000													18	99					0	0	0.000229342	0	0
SEPP1	6414	broad.mit.edu	37	5	42801047	42801047	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:42801047C>T	ENST00000514985.1	-	5	1177	c.921G>A	c.(919-921)ctG>ctA	p.L307L	CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000511224.1_Silent_p.L307L|SEPP1_ENST00000506577.1_Silent_p.L307L	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	307					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTTCAAATATCAGATGTCGAC	0.433000													5	44					0	0	8.12818e-05	0	0
FARSA	2193	broad.mit.edu	37	19	13041110	13041110	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:13041110G>A	ENST00000588025.1	-	5	690	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	FARSA_ENST00000423140.2_Missense_Mutation_p.R144W|FARSA_ENST00000314606.4_Missense_Mutation_p.R144W			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R144W(1)|p.R144R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGTCCCCCCCGGACCAGCTGG	0.652000													9	39					0	0	0.000442599	0	0
ARSI	340075	broad.mit.edu	37	5	149677575	149677575	+	Silent	SNP	C	C	T	rs142802678		TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:149677575C>T	ENST00000328668.7	-	2	1491	c.912G>A	c.(910-912)tcG>tcA	p.S304S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	304						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGCCCCCCGAGAAAGTCT	0.587000													12	34					0	0	0.00010058	0	0
BCOR	54880	broad.mit.edu	37	X	39923809	39923809	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chrX:39923809G>A	ENST00000342274.4	-	7	3644	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A	BCOR_ENST00000378463.1_5'UTR|BCOR_ENST00000378455.4_Silent_p.A1076A|BCOR_ENST00000397354.3_Silent_p.A1094A|BCOR_ENST00000378444.4_Silent_p.A1094A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1094					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTCCTCTGGGGCTTCAAAGG	0.577000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						18	36					0	0	0.000175454	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:113519565C>T	ENST00000284601.3	-	4	1650	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	528					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGTTTTTCATTAACACCT	0.348000													5	7					0	0	3.59834e-05	0	0
ADRA1D	146	broad.mit.edu	37	20	4202630	4202630	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:4202630T>C	ENST00000379453.4	-	2	1375	c.1259A>G	c.(1258-1260)cAg>cGg	p.Q420R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	420					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	ACGACGGCACTGGCAGCGCAG	0.692000													3	7					0	0	6.4e-05	0	0
PGC	5225	broad.mit.edu	37	6	41712205	41712205	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:41712205G>A	ENST00000373025.3	-	3	320	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PGC_ENST00000425343.2_Silent_p.F86F	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	86					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AAAGGACCAGGAAGTTCTGGG	0.622000													16	68					0	0	0.000566183	0	0
OGDHL	55753	broad.mit.edu	37	10	50959916	50959916	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:50959916C>T	ENST00000374103.4	-	6	791	c.706G>A	c.(706-708)Gag>Aag	p.E236K	OGDHL_ENST00000419399.1_Missense_Mutation_p.E179K|OGDHL_ENST00000432695.1_Missense_Mutation_p.E27K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	236					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCTTCTCCTCGCTGGAGAAC	0.602000													14	71					0	0	0.000151284	0	0
MSH6	2956	broad.mit.edu	37	2	48030752	48030752	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:48030752G>A	ENST00000234420.4	+	5	3518	c.3366G>A	c.(3364-3366)caG>caA	p.Q1122Q	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.Q992Q|MSH6_ENST00000538136.1_Silent_p.Q820Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1122	Poly-Glu.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGAGGAGCAGGAAAATGGCA	0.398000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	26					0	0	8.12818e-05	0	0
CNTN5	53942	broad.mit.edu	37	11	99690287	99690287	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:99690287C>T	ENST00000524871.1	+	4	358	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CNTN5_ENST00000279463.3_Missense_Mutation_p.S23F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S23F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.S23F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	23			S -> A (in dbSNP:rs10790978).		cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTCAAAATCTCTTCCTGGT	0.323000													12	77					0	0	0.00010058	0	0
PTPRS	5802	broad.mit.edu	37	19	5238961	5238961	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:5238961G>A	ENST00000372412.4	-	13	2054	c.1821C>T	c.(1819-1821)acC>acT	p.T607T	PTPRS_ENST00000357368.4_Silent_p.T606T|PTPRS_ENST00000348075.2_Silent_p.T593T|PTPRS_ENST00000592099.1_Silent_p.T593T|PTPRS_ENST00000262963.6_Silent_p.T602T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.T593T|PTPRS_ENST00000353284.2_Silent_p.T593T|PTPRS_ENST00000587303.1_Silent_p.T606T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	606	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCACCACGGGGGTGAAGGCGC	0.721000													15	38					0	0	0.000219431	0	0
OR13C4	138804	broad.mit.edu	37	9	107289083	107289083	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:107289083C>T	ENST00000277216.3	-	1	407	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCACCTTGTTCATGATGATGG	0.458000													12	19					0	0	0.00010058	0	0
GRK4	2868	broad.mit.edu	37	4	3029658	3029658	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:3029658C>T	ENST00000398052.4	+	11	1333	c.990C>T	c.(988-990)gaC>gaT	p.D330D	GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Silent_p.D330D|GRK4_ENST00000345167.6_Silent_p.D298D|GRK4_ENST00000398051.4_Silent_p.D298D	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	330	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGATTTCAGACCTCGGTTTGG	0.493000													11	111					0	0	0.000219431	0	0
SSPO	23145	broad.mit.edu	37	7	149521519	149521519	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:149521519C>T	ENST00000378016.2	+	0	13598							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGTGGTCGCCCTGTGGGCCC	0.687000													4	15					0	0	0.000602214	0	0
HMCN1	83872	broad.mit.edu	37	1	185963949	185963949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:185963949C>T	ENST00000271588.4	+	24	3737	c.3508C>T	c.(3508-3510)Cct>Tct	p.P1170S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1170S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1170					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTTCTAGTTCCTCCAAAGAT	0.393000													5	11					0	0	0.000602214	0	0
SCARF1	8578	broad.mit.edu	37	17	1538734	1538734	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:1538734C>T	ENST00000263071.4	-	11	1860	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	SCARF1_ENST00000348987.3_Missense_Mutation_p.R518Q|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	604	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGAGCTTCGGCGACTCTG	0.677000													14	64					0	0	0.000308642	0	0
COL15A1	1306	broad.mit.edu	37	9	101765859	101765859	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:101765859G>A	ENST00000375001.3	+	8	1613	c.1190G>A	c.(1189-1191)gGg>gAg	p.G397E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	397	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCAGAGGAAGGGGTCACTCCA	0.607000													6	37					0	0	3.59834e-05	0	0
DSEL	92126	broad.mit.edu	37	18	65181271	65181271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:65181271C>T	ENST00000310045.7	-	2	2078	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	192						integral to membrane	isomerase activity|sulfotransferase activity	p.R202Q(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTTGTCTTCGATGATTATC	0.398000													9	54					0	0	0.000673444	0	0
PDHA2	5161	broad.mit.edu	37	4	96762141	96762141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:96762141G>A	ENST00000295266.4	+	1	903	c.840G>A	c.(838-840)atG>atA	p.M280I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	280			M -> L (in dbSNP:rs2229137).		glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCATACTGATGGAGCTGCAAA	0.458000													8	34					0	0	0.000157383	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471823	47471823	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:47471823G>A	ENST00000266581.4	-	2	1429	c.963C>T	c.(961-963)ttC>ttT	p.F321F	AMIGO2_ENST00000429635.1_Silent_p.F321F|AMIGO2_ENST00000321382.3_Silent_p.F321F|AMIGO2_ENST00000550413.1_Silent_p.F321F	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	321	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCACCCAGATGAAATCCGTAT	0.463000													23	124					0	0	0.000878237	0	0
FAM65C	140876	broad.mit.edu	37	20	49225065	49225065	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:49225065C>T	ENST00000327979.2	-	11	1216	c.805G>A	c.(805-807)Gag>Aag	p.E269K	FAM65C_ENST00000535356.1_Missense_Mutation_p.E273K|FAM65C_ENST00000045083.2_Missense_Mutation_p.E269K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	269										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCGCAACTCCGTCACCTGG	0.682000													15	105					0	0	0.000422831	0	0
FBXW10	10517	broad.mit.edu	37	17	18673257	18673257	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:18673257C>T	ENST00000308799.4	+	10	2171	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F	FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Missense_Mutation_p.S622F|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Missense_Mutation_p.S622F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	622										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTCGACGTGTCCCTTCTCTTC	0.507000													30	137					0	0	0.000409698	0	0
NOX5	79400	broad.mit.edu	37	15	69335040	69335040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:69335040G>A	ENST00000260364.5	+	11	1789	c.1488G>A	c.(1486-1488)tgG>tgA	p.W496*	NOX5_ENST00000448182.3_Nonsense_Mutation_p.W468*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Nonsense_Mutation_p.W486*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.W514*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.W479*			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	514	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AAGGCCAGTGGACAAACAGGC	0.547000													11	32					0	0	6.40141e-05	0	0
FBXW10	10517	broad.mit.edu	37	17	18682444	18682444	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:18682444G>A	ENST00000308799.4	+	12	3238	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	FBXW10_ENST00000395667.1_Missense_Mutation_p.E997K|FBXW10_ENST00000301938.4_Missense_Mutation_p.E945K|FBXW10_ENST00000395665.4_Missense_Mutation_p.E998K			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	998										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGAGCACCAGGAAGCCAAGAT	0.502000													17	71					0	0	0.00074312	0	0
SCN3A	6328	broad.mit.edu	37	2	165947405	165947405	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:165947405C>T	ENST00000360093.3	-	28	5749	c.5258G>A	c.(5257-5259)aGt>aAt	p.S1753N	SCN3A_ENST00000409101.3_Missense_Mutation_p.S1704N|SCN3A_ENST00000540861.1_Missense_Mutation_p.S236N|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1753N|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1753						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GATGATGTAACTGACAAAAAA	0.483000													16	10					0	0	0.000422831	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000													11	63					0	0	0.000673444	0	0
ZNF786	136051	broad.mit.edu	37	7	148769496	148769496	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:148769496G>A	ENST00000316286.9	-	3	382	c.110C>T	c.(109-111)tCc>tTc	p.S37F	ZNF786_ENST00000491431.1_Missense_Mutation_p.S123F|ZNF786_ENST00000451334.3_Missense_Mutation_p.S86F			Q8N393	ZN786_HUMAN	zinc finger protein 786	123	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGATCCAAAGGAACACTGGCT	0.507000													17	16					0	0	0.000566183	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988033	154988033	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154988033C>T	ENST00000368426.3	+	3	1034	c.897C>T	c.(895-897)tcC>tcT	p.S299S	ZBTB7B_ENST00000292176.2_Silent_p.S299S|ZBTB7B_ENST00000417934.2_Silent_p.S333S|ZBTB7B_ENST00000535420.1_Silent_p.S299S	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	299					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCGCTGTCCCCAGAGGAGC	0.632000													5	48					0	0	0.000602214	0	0
RGS3	5998	broad.mit.edu	37	9	116269666	116269666	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:116269666G>A	ENST00000374140.2	+	14	1394	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	RGS3_ENST00000394646.3_Silent_p.S114S|RGS3_ENST00000317613.6_Silent_p.S283S|RGS3_ENST00000374136.1_Silent_p.S21S|RGS3_ENST00000343817.5_Silent_p.S114S|RGS3_ENST00000350696.5_Silent_p.S395S	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	395					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAAGTCGACACATGACC	0.647000													22	45					0	0	0.000375601	0	0
C14orf182	283551	broad.mit.edu	37	14	50472359	50472359	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:50472359G>A	ENST00000399206.1	-	1	1879	c.159C>T	c.(157-159)ttC>ttT	p.F53F	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	53										large_intestine(2)|urinary_tract(1)	3						GCAAGAAGACGAAATGTCTGT	0.532000													19	146					0	0	0.000958276	0	0
PLCE1	51196	broad.mit.edu	37	10	95849071	95849071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:95849071G>A	ENST00000371375.1	+	1	220	c.220G>A	c.(220-222)Gag>Aag	p.E74K	PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCGCTCTCTGAGGTACCCAA	0.517000													12	55					0	0	0.00010058	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806489	97806489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:97806489C>T	ENST00000358642.2	+	1	473	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTCCTGCATCCTCTGGTTCAT	0.353000													14	90					0	0	0.000308642	0	0
PDE6C	5146	broad.mit.edu	37	10	95380650	95380650	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:95380650C>T	ENST00000371447.3	+	3	774	c.636C>T	c.(634-636)gtC>gtT	p.V212V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	212	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GTCTGTAGGTCTTTTCCAAAT	0.413000													26	191					0	0	0.000184323	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517364	140517364	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:140517364G>A	ENST00000231134.5	+	1	2565	c.2348G>A	c.(2347-2349)gGg>gAg	p.G783E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAATAGGGAAAACTGCT	0.468000													24	114					0	0	0.000586117	0	0
NCEH1	57552	broad.mit.edu	37	3	172351310	172351310	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:172351310G>A	ENST00000475381.1	-	5	1415	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	NCEH1_ENST00000273512.3_Silent_p.I426I|NCEH1_ENST00000543711.1_Silent_p.I261I|NCEH1_ENST00000538775.1_Silent_p.I434I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	394					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TCCTAGTCCGGATTCCCACTG	0.502000													6	46					0	0	8.12818e-05	0	0
F5	2153	broad.mit.edu	37	1	169505778	169505778	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:169505778G>A	ENST00000367796.3	-	14	5153	c.4952C>T	c.(4951-4953)cCt>cTt	p.P1651L	F5_ENST00000367797.3_Missense_Mutation_p.P1646L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1646	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGATAATAGGACCAAGAAT	0.428000													4	23					0	0	0.000602214	0	0
ATP2C2	9914	broad.mit.edu	37	16	84486767	84486767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:84486767G>A	ENST00000416219.2	+	19	1944	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G619R|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	619					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G619R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTGTGCAACGGGAAGCTGCA	0.672000													9	26					0	0	0.000274275	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887203	9887203	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr18:9887203C>T	ENST00000306084.6	+	2	926	c.727C>T	c.(727-729)Cca>Tca	p.P243S	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P176S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	243	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCCAAGTCCCCAGAAGAAAC	0.572000													9	44					0	0	0.000673444	0	0
HELZ	9931	broad.mit.edu	37	17	65174871	65174871	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr17:65174871G>A	ENST00000358691.5	-	13	1500	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	HELZ_ENST00000580168.1_Missense_Mutation_p.S445F	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTCTAAAACGGACTGAGTAAA	0.373000													37	68					0	0	0.000228196	0	0
CASS4	57091	broad.mit.edu	37	20	55026888	55026888	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:55026888C>T	ENST00000371336.3	+	5	857	c.656C>T	c.(655-657)cCc>cTc	p.P219L	CASS4_ENST00000360314.3_Missense_Mutation_p.P219L|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	219					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGGGTGTTCCCCTGATATCA	0.498000													8	41					0	0	0.000442599	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065217	62065217	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:62065217C>T	ENST00000354587.3	-	8	1239	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D355N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D355N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.D355N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D355N|KCNQ2_ENST00000370221.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D355N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D355N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	355					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAGTGCAGGTCTGTGCGCGAG	0.637000													14	107					0	0	0.000219431	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250149	68250149	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr14:68250149G>A	ENST00000347230.4	-	21	3858	c.3720C>T	c.(3718-3720)tcC>tcT	p.S1240S	ZFYVE26_ENST00000555452.1_Silent_p.S1240S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1240					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTGCCGGGATGAGCAAA	0.592000													9	47					0	0	0.000274275	0	0
PEG3	5178	broad.mit.edu	37	19	57327719	57327719	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:57327719G>A	ENST00000326441.9	-	10	2454	c.2091C>T	c.(2089-2091)agC>agT	p.S697S	PEG3_ENST00000423103.2_Silent_p.S697S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.S571S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.S573S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	697					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGCTCTGAGCTTTGCATGA	0.433000													6	35					0	0	3.59834e-05	0	0
OR1I1	126370	broad.mit.edu	37	19	15197931	15197931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:15197931G>A	ENST00000209540.2	+	1	141	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GGGACTCTCAGAAAAGCCAGA	0.468000													12	56					0	0	0.00010058	0	0
NALCN	259232	broad.mit.edu	37	13	101763483	101763483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:101763483C>T	ENST00000251127.6	-	19	2368	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	763						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTGCGCTCTTGGCGGATA	0.547000													11	40					0	0	0.00010058	0	0
PARP4	143	broad.mit.edu	37	13	25029202	25029202	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr13:25029202G>A	ENST00000381989.3	-	22	2816	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	904	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACCCACCAAGGACAGCGCATG	0.512000													33	210					0	0	0.000191422	0	0
KCNN3	3782	broad.mit.edu	37	1	154744469	154744469	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154744469G>A	ENST00000271915.3	-	3	1745	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	KCNN3_ENST00000361147.4_Missense_Mutation_p.T172I|KCNN3_ENST00000358505.2_Missense_Mutation_p.T164I	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	482						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GACACGGACGGTCCAGGCAGC	0.547000													8	79					0	0	0.000673444	0	0
BHMT	635	broad.mit.edu	37	5	78411693	78411693	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:78411693C>T	ENST00000274353.5	+	2	244	c.137C>T	c.(136-138)cCt>cTt	p.P46L	BHMT_ENST00000524080.1_Missense_Mutation_p.P46L|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	46	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCTGGACTCCTGAAGCTGCT	0.517000													9	28					0	0	0.000274275	0	0
ACACB	32	broad.mit.edu	37	12	109629448	109629448	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr12:109629448C>T	ENST00000338432.7	+	14	2294	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	ACACB_ENST00000377854.5_Silent_p.S725S|ACACB_ENST00000377848.3_Silent_p.S725S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	725	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGAACTGTCCATCCGAGGCG	0.488000													24	118					0	0	0.000339439	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923827	154923827	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:154923827C>T	ENST00000368463.3	-	5	361	c.290G>A	c.(289-291)gGa>gAa	p.G97E	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Missense_Mutation_p.G68E|PBXIP1_ENST00000368460.3_Missense_Mutation_p.G97E|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	97					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACTGTGTCTCCTGGGCCAGG	0.627000													32	34					0	0	0.000409698	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009431	100009431	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:100009431C>T	ENST00000394144.4	+	5	493	c.486C>T	c.(484-486)tcC>tcT	p.S162S	TBC1D23_ENST00000344949.5_Silent_p.S162S|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.S25S	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GGGATTGTTCCCAGAAAGGGA	0.393000													9	43					0	0	0.000673444	0	0
OR56A4	120793	broad.mit.edu	37	11	6023653	6023653	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:6023653G>A	ENST00000330728.4	-	1	771	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACAAGAGAGTTTGGACA	0.433000													17	15					0	0	0.00074312	0	0
COL6A3	1293	broad.mit.edu	37	2	238285803	238285803	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:238285803C>T	ENST00000295550.4	-	7	3134	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	COL6A3_ENST00000353578.4_Silent_p.Q688Q|COL6A3_ENST00000392003.2_Silent_p.Q487Q|COL6A3_ENST00000409809.1_Silent_p.Q688Q|COL6A3_ENST00000347401.3_Silent_p.Q693Q|COL6A3_ENST00000472056.1_Silent_p.Q287Q|COL6A3_ENST00000346358.4_Silent_p.Q694Q|COL6A3_ENST00000392004.3_Silent_p.Q688Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	894	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGCTTACTCTGGTGCTCAT	0.507000													31	98					0	0	0.000339439	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269383	43269383	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:43269383C>T	ENST00000372585.5	+	7	1109	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	SLC22A7_ENST00000372589.3_Silent_p.F336F|SLC22A7_ENST00000372574.3_Silent_p.F336F|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	338						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TAGACCTGTTCCGCACACCAC	0.602000													8	35					0	0	0.000274275	0	0
MLXIPL	51085	broad.mit.edu	37	7	73021319	73021319	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73021319G>A	ENST00000313375.3	-	5	650	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MLXIPL_ENST00000429400.2_Silent_p.L201L|MLXIPL_ENST00000414749.2_Silent_p.L201L|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000354613.1_Silent_p.L201L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	201					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGGCCAGGAGGTCATCTT	0.597000											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0	0	8.12818e-05	0	0
WDR5B	54554	broad.mit.edu	37	3	122133664	122133664	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr3:122133664C>T	ENST00000330689.4	-	1	1218	c.712G>A	c.(712-714)Gat>Aat	p.D238N		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	238										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTGCTATAATCCCATAGTTTA	0.378000													19	91					0	0	0.000295444	0	0
GRID1	2894	broad.mit.edu	37	10	87614336	87614336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:87614336G>A	ENST00000327946.7	-	8	1235	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	384						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R384W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGTCCTCCCGAAACTCCATC	0.507000										Multiple Myeloma(13;0.14)			6	33					0	0	8.12818e-05	0	0
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:1079206G>A	ENST00000308624.5	+	2	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_ENST00000407292.1_Silent_p.T25T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	25					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.T25T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCTACAGACGAAAACCACTA	0.478000													6	104					0	0	8.12818e-05	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028023	45028023	+	RNA	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr19:45028023C>T	ENST00000454753.1	-	0	746							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACTCACACTTCACATCCAGGA	0.527000													25	189					0	0	0.000586117	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			92	94					0	0	0.000781405	0	0
CASC5	57082	broad.mit.edu	37	15	40949309	40949309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:40949309C>T	ENST00000346991.5	+	24	7022	c.6632C>T	c.(6631-6633)tCc>tTc	p.S2211F	CASC5_ENST00000399668.2_Missense_Mutation_p.S2185F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2211	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		gaaaaggaatcctggaagaag	0.388000													11	61					0	0	6.40141e-05	0	0
HK3	3101	broad.mit.edu	37	5	176314301	176314301	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:176314301C>T	ENST00000292432.5	-	12	1729	c.1638G>A	c.(1636-1638)acG>acA	p.T546T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	546	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACGGAAGTTCGTGCCCCCGA	0.642000													13	49					0	0	0.000219431	0	0
DIS3L	115752	broad.mit.edu	37	15	66615079	66615079	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr15:66615079G>A	ENST00000319194.5	+	10	1393	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	DIS3L_ENST00000319212.4_Missense_Mutation_p.E461K|DIS3L_ENST00000441424.2_3'UTR|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	461					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGTCCTGAAGAGGAACAAAA	0.428000													6	43					0	0	8.12818e-05	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391953	117391953	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:117391953C>T	ENST00000321322.6	-	6	1286	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E159K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	369	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E429*(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCAGCGTCTCGTTGCTGAGC	0.642000													42	68					0	0	0.000781405	0	0
XKR4	114786	broad.mit.edu	37	8	56435900	56435900	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr8:56435900C>T	ENST00000327381.5	+	3	1167	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	356						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TACCAGAAGGCCCTCCGGGAC	0.572000													6	21					0	0	3.59834e-05	0	0
ADAM15	8751	broad.mit.edu	37	1	155026956	155026956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:155026956C>T	ENST00000356955.2	+	6	687	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	ADAM15_ENST00000531455.1_Missense_Mutation_p.P206S|ADAM15_ENST00000359280.4_Missense_Mutation_p.P196S|ADAM15_ENST00000355956.2_Missense_Mutation_p.P196S|ADAM15_ENST00000449910.2_Missense_Mutation_p.P196S|ADAM15_ENST00000360674.4_Missense_Mutation_p.P196S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.P196S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.P180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.P196S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	196					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACCAGAGCACCCCCTGGGACA	0.587000													9	99					0	0	0.00010058	0	0
GZMK	3003	broad.mit.edu	37	5	54326316	54326316	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr5:54326316G>A	ENST00000231009.2	+	3	337	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCTCTCAAAGAATGAGGCCT	0.393000													14	48					0	0	0.000151284	0	0
SHANK2	22941	broad.mit.edu	37	11	70505998	70505998	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:70505998C>T	ENST00000338508.4	-	23	1998	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	SHANK2_ENST00000409530.1_Missense_Mutation_p.E77K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E78K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E287K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E78K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E77K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E78K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	287					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCACGGACTCCAGGTACTGT	0.557000													10	27					0	0	0.000151284	0	0
CFHR5	81494	broad.mit.edu	37	1	196953100	196953100	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:196953100C>T	ENST00000367414.5	+	3	391	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S88F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	88	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAATGTGTTCCTTTCCTTTT	0.308000													4	9					0	0	0.00024832	0	0
HN1L	90861	broad.mit.edu	37	16	1748899	1748899	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr16:1748899C>T	ENST00000248098.3	+	5	530	c.473C>T	c.(472-474)cCc>cTc	p.P158L	HN1L_ENST00000382711.5_Missense_Mutation_p.P142L|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.P186L|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.P146L|HN1L_ENST00000569256.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	158						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GAGCCCATGCCCACAGTCGAC	0.632000													23	92					0	0	0.000295444	0	0
TCP11L1	55346	broad.mit.edu	37	11	33065476	33065476	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr11:33065476C>T	ENST00000334274.4	+	2	557	c.157C>T	c.(157-159)Cct>Tct	p.P53S	TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000531632.2_Missense_Mutation_p.P53S|TCP11L1_ENST00000432887.1_Missense_Mutation_p.P53S	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	53										kidney(1)|liver(2)|lung(2)|skin(1)	6						AGTGCAGAGACCTCACTGTAA	0.468000													27	64					0	0	0.000147802	0	0
LDB2	9079	broad.mit.edu	37	4	16510260	16510260	+	Silent	SNP	G	G	A			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr4:16510260G>A	ENST00000502640.1	-	7	937	c.789C>T	c.(787-789)tcC>tcT	p.S263S	LDB2_ENST00000515064.1_Silent_p.S263S|LDB2_ENST00000441778.2_Silent_p.S263S|LDB2_ENST00000304523.5_Silent_p.S263S|LDB2_ENST00000503178.2_Silent_p.S139S|RP11-446J8.1_ENST00000512370.1_RNA			O43679	LDB2_HUMAN	LIM domain binding 2	263							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGCTGCTGGTGGAATTTTTCC	0.493000													6	16					0	0	3.59834e-05	0	0
NMBR	4829	broad.mit.edu	37	6	142409673	142409673	+	Silent	SNP	C	C	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr6:142409673C>T	ENST00000258042.1	-	1	263	c.123G>A	c.(121-123)gtG>gtA	p.V41V	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	41					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CACAGCGGATCACCAACTCCG	0.607000													8	17					0	0	0.000274275	0	0
MCOLN2	255231	broad.mit.edu	37	1	85422148	85422149	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr1:85422148_85422149insT	ENST00000370608.3	-	4	597_598	c.530_531insA	c.(529-531)agafs	p.R177fs	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Frame_Shift_Ins_p.R149fs	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	177						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TCAGTGTCTCATTAGAAGGAAA	0.406													10	57	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97875580	97875580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr2:97875580delA	ENST00000420699.2	+	56	3582	c.3338delA	c.(3337-3339)gafs	p.E1113fs	ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.E1113fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1113										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATAGCCAGAGAAAAAAAGGAT	0.323													2	4	---	---	---	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gtc>g	p.DV19del	STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													8	218	---	---	---	---					
ITIH5	80760	broad.mit.edu	37	10	7618686	7618686	+	Frame_Shift_Del	DEL	T	T	-	rs2275069	byFrequency	TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr10:7618686delT	ENST00000256861.6	-	10	1786	c.1708delA	c.(1708-1710)ccfs	p.T570fs	ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	570			T -> P (in dbSNP:rs2275069).		hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGTGGTTGGTGTCCCCCTCT	0.587													10	38	---	---	---	---					
EBF4	57593	broad.mit.edu	37	20	2686263	2686263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JD-06A-11D-A19A-08	TCGA-D3-A2JD-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a4b392-e2d8-4304-b7ef-54b63abe42de	4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47	g.chr20:2686263delC	ENST00000380648.4	+	3	434	c.166delC	c.(166-168)ccfs	p.P56fs	EBF4_ENST00000342725.4_Frame_Shift_Del_p.P60fs	NM_001110514.1	NP_001103984.1	Q9BQW3	COE4_HUMAN	early B-cell factor 4	60					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding										GAAGCAGCCTCCCTCCAACCT	0.587													2	4	---	---	---	---					
