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
FLG2	388698	broad.mit.edu	37	1	152328737	152328737	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:152328737C>T	ENST00000388718.5	-	3	1597	c.1525G>A	c.(1525-1527)Ggg>Agg	p.G509R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	509	Ser-rich.						calcium ion binding|structural molecule activity	p.G509R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACAGACCCATGCTGTCCA	0.522000													66	199					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196750942	196750942	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:196750942C>A	ENST00000312428.6	-	34	5561	c.5461G>T	c.(5461-5463)Gac>Tac	p.D1821Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1821					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D1821Y(1)		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						ATAAAACAGTCTATTAGATTC	0.348000													14	50					2.61681e-11	3.77984e-11	1	1	0
KRT34	3885	broad.mit.edu	37	17	39538481	39538481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:39538481G>T	ENST00000394001.1	-	1	174	c.144C>A	c.(142-144)tgC>tgA	p.C48*		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	48	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.C48*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGCTGGGCAGGCAACAACTGT	0.632000													18	77					6.49762e-13	9.76521e-13	1	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431279	56431279	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:56431279G>T	ENST00000302969.2	+	1	142	c.118G>T	c.(118-120)Gtg>Ttg	p.V40L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V40L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGTTAATGTAGTGGGGAATAT	0.443000													53	170					7.91745e-34	1.53622e-33	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668286	176668286	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:176668286C>A	ENST00000367662.3	+	8	3961	c.2797C>A	c.(2797-2799)Cct>Act	p.P933T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	933					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P933T(1)		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						GGCCTGGAGCCCTGAGGTCCA	0.572000													38	62					1.32136e-16	2.17438e-16	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73848519	73848519	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:73848519G>C	ENST00000523207.1	+	3	1517	c.929G>C	c.(928-930)aGg>aCg	p.R310T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	310					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R310T(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)			CGCATCCTCAGGATCCTGAAA	0.512000													22	50					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8731976	8731976	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:8731976C>A	ENST00000311434.9	-	11	1460	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	407					platelet activation	cytosol		p.L488L(1)									ACACGCCGGGCAGCATTTCCC	0.697000													6	11					3.59834e-05	4.03262e-05	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189063558	189063558	+	Silent	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:189063558C>G	ENST00000332517.3	+	3	797	c.657C>G	c.(655-657)acC>acG	p.T219T	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	219					multicellular organismal development		ligase activity|zinc ion binding	p.T219T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAAACTGACCCAGCAAATCA	0.453000													12	35					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634669	178634669	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:178634669G>T	ENST00000251582.7	-	4	837	c.736C>A	c.(736-738)Cta>Ata	p.L246I	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.L246I	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	246					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L246I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTCCTCTAGGACGCCCAGG	0.657000													19	61					2.4624e-09	3.31722e-09	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173997044	173997044	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:173997044T>G	ENST00000457714.1	+	6	1682	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.F418C|NLGN1_ENST00000401917.3_Missense_Mutation_p.F458C|NLGN1_ENST00000361589.4_Missense_Mutation_p.F418C	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	435					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.F418C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTTCAAATTTTGTTGATAAT	0.358000													21	29					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277543	44277543	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:44277543C>A	ENST00000216177.4	-	8	1226	c.1094G>T	c.(1093-1095)tGg>tTg	p.W365L	PNPLA5_ENST00000597664.1_Missense_Mutation_p.W365L|PNPLA5_ENST00000593866.1_Missense_Mutation_p.W251L|PNPLA5_ENST00000381198.2_Missense_Mutation_p.W251L	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	365					lipid catabolic process		hydrolase activity	p.W365L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATCGGGCAGCCACACCACCAA	0.667000													7	11					0.0692343	0.0703161	1	1	0
FRRS1	391059	broad.mit.edu	37	1	100185118	100185118	+	Silent	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:100185118G>A	ENST00000414213.1	-	10	1693	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	FRRS1_ENST00000287474.5_Silent_p.S364S			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	364	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	p.S364S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GTACAGAATGGGATCCTCCTA	0.408000													24	44					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66028456	66028456	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr14:66028456G>A	ENST00000360689.5	+	3	1902	c.175G>A	c.(175-177)Gac>Aac	p.D59N	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.D59N|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.D59N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	59					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.D59N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACAGAATGAAGACTTGAGGCG	0.428000													16	21					0	0	1	0	0
TRPT1	83707	broad.mit.edu	37	11	63992969	63992969	+	Splice_Site	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:63992969A>C	ENST00000394546.2	-	3	371		c.e3+1		TRPT1_ENST00000317459.6_Splice_Site|TRPT1_ENST00000541278.1_Splice_Site|TRPT1_ENST00000540472.1_Intron|TRPT1_ENST00000394547.3_Splice_Site|TRPT1_ENST00000546089.1_Splice_Site	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1								tRNA 2'-phosphotransferase activity	p.?(1)		lung(2)|skin(1)	3						GCCCCTACTTACCAGCTCCCA	0.637000													6	12					0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702345	25702345	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:25702345C>A	ENST00000282881.6	-	2	311	c.162G>T	c.(160-162)caG>caT	p.Q54H	IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q75H|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q75H	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	54						intermediate filament	structural molecule activity	p.Q75H(1)|p.Q54H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTCTACTAATCTGAGGACTAG	0.408000													22	49					7.87624e-14	1.2046e-13	1	1	0
HRNR	388697	broad.mit.edu	37	1	152188257	152188257	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:152188257T>C	ENST00000368801.2	-	3	5923	c.5848A>G	c.(5848-5850)Agc>Ggc	p.S1950G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1950					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCCACGGCTAGGGCTAGGA	0.607000													19	1288					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945057	151945057	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:151945057G>A	ENST00000355193.2	-	14	2680	c.2462C>T	c.(2461-2463)cCa>cTa	p.P821L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P821L					lysine (K)-specific methyltransferase 2C									p.P821L(2)									GCCAATTTTTGGAGTGACTGA	0.413000													20	226					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529162	57529162	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:57529162C>A	ENST00000420713.1	+	4	1107	c.995C>A	c.(994-996)gCc>gAc	p.A332D		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.A332D(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGCAAAGCCTTTAGCTTA	0.418000													13	13					1.05317e-09	1.42617e-09	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274174	39274174	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:39274174G>T	ENST00000391413.2	-	1	432	c.394C>A	c.(394-396)Ccc>Acc	p.P132T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	132	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.P132T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagcaggtgggctggcagcac	0.667000													10	21					1.08611e-07	1.3775e-07	1	1	0
MAT1A	4143	broad.mit.edu	37	10	82036320	82036320	+	Missense_Mutation	SNP	C	C	T	rs148687668		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:82036320C>T	ENST00000372213.3	-	6	840	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	194					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGATGACTGCGCCATTGTCC	0.572000													5	159					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35578665	35578665	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:35578665C>A	ENST00000353139.5	-	29	4144	c.3663G>T	c.(3661-3663)ctG>ctT	p.L1221L	ACACA_ENST00000335166.5_Silent_p.L1106L|ACACA_ENST00000394406.2_Silent_p.L1184L|ACACA_ENST00000360679.3_Silent_p.L1126L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1184					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L1221L(1)|p.L1126L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAGATGTGGGCAGCATGAACT	0.473000													12	46					6.40141e-05	7.08241e-05	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	49					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52699031	52699031	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:52699031G>C	ENST00000370989.1	-	5	480	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	108	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.L108V(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGAGCAGAAGAAGGATCATT	0.368000													47	114					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27445756	27445756	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr16:27445756G>T	ENST00000337929.3	+	3	611	c.138G>T	c.(136-138)acG>acT	p.T46T	IL21R_ENST00000564089.1_Silent_p.T46T|IL21R_ENST00000395754.4_Silent_p.T46T|IL21R_ENST00000395755.1_Silent_p.T46T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	46					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.T46T(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCCCAGCACGCTCACCCTTA	0.617000			T	BCL6	NHL								7	7					5.18039e-06	6.01295e-06	1	1	0
PDZD8	118987	broad.mit.edu	37	10	119043833	119043833	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:119043833T>A	ENST00000334464.5	-	5	2650	c.2411A>T	c.(2410-2412)cAt>cTt	p.H804L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	804					intracellular signal transduction		metal ion binding	p.H804L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGTAACTACATGGTGGTCTGA	0.363000													11	62					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1680744	1680744	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:1680744C>G	ENST00000252804.4	-	8	853	c.803G>C	c.(802-804)aGa>aCa	p.R268T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	268	Ig-like C2-type 1.				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	p.R268T(1)		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)		GCCTTCGGCTCTGCAGGTGAA	0.562000													11	13					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156932	33156932	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:33156932A>T	ENST00000341947.2	-	3	493	c.266T>A	c.(265-267)gTt>gAt	p.V89D	COL11A2_ENST00000357486.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374712.1_Missense_Mutation_p.V89D|COL11A2_ENST00000395197.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374714.1_Missense_Mutation_p.V89D|COL11A2_ENST00000395194.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374713.1_Missense_Mutation_p.V89D|COL11A2_ENST00000361917.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374708.4_Missense_Mutation_p.V89D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	89	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.V89D(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCCGGACAACAGTCAGCAG	0.597000													19	25					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154414418	154414418	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:154414418C>A	ENST00000229768.5	+	4	1228	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000419506.2_Intron	NM_001008505.1	NP_001008505.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	176					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.P393H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CTACCTATACCTTCCCTGTCT	0.428000													37	129					7.61001e-30	1.45485e-29	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1264035	1264035	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:1264035C>A	ENST00000447027.1	+	31	5992	c.5934C>A	c.(5932-5934)ccC>ccA	p.P1978P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P1975P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1975	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P1978P(1)|p.P1975P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACACCCACAGCTACCA	0.637000													44	77					3.4345e-17	5.7985e-17	1	1	0
FAT3	120114	broad.mit.edu	37	11	92590441	92590441	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:92590441G>T	ENST00000298047.6	+	19	11444	c.11427G>T	c.(11425-11427)caG>caT	p.Q3809H	FAT3_ENST00000525166.1_Missense_Mutation_p.Q3659H|FAT3_ENST00000533797.1_Missense_Mutation_p.Q144H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q3809H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3809	EGF-like 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q3809H(2)|p.Q384H(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGACATGCAGTGTGTCAGTT	0.547000										TCGA Ovarian(4;0.039)			18	60					1.99824e-07	2.49779e-07	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163256864	163256864	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:163256864C>A	ENST00000332142.5	-	10	2341	c.2242G>T	c.(2242-2244)Ggg>Tgg	p.G748W		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	748					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G748W(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTACTTGCCCCCCGAAAGGCT	0.483000													23	70					9.95505e-16	1.57824e-15	1	1	0
PIK3R5	23533	broad.mit.edu	37	17	8785177	8785177	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:8785177G>A	ENST00000447110.1	-	16	2351	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	PIK3R5_ENST00000584803.1_Missense_Mutation_p.R742C|PIK3R5_ENST00000581552.1_Missense_Mutation_p.R743C	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	743	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus		p.R743C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTGCTCCAGCGACTTCGTCCA	0.612000													8	12					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69685223	69685223	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:69685223G>T	ENST00000370598.1	+	10	2546	c.1725G>T	c.(1723-1725)ttG>ttT	p.L575F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	575					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L575F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGACACTTGCAGCATTCAG	0.443000													12	39					9.31168e-06	1.06186e-05	1	1	0
SHANK3	85358	broad.mit.edu	37	22	51159381	51159381	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:51159381C>A	ENST00000414786.2	+	21	3305	c.3078C>A	c.(3076-3078)ccC>ccA	p.P1026P	SHANK3_ENST00000445220.2_Silent_p.P1042P|SHANK3_ENST00000262795.3_Silent_p.P1056P			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1056								p.P1056P(1)|p.P149P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCAGCGCCCCCGGCGCGGATC	0.776000													4	8					0.150653	0.151821	1	1	0
SEC61A2	55176	broad.mit.edu	37	10	12191875	12191875	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:12191875G>T	ENST00000379033.3	+	5	458	c.311G>T	c.(310-312)gGg>gTg	p.G104V	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G126V|SEC61A2_ENST00000379017.3_Missense_Mutation_p.G126V|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G126V|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G126V|SEC61A2_ENST00000379051.1_Missense_Mutation_p.G126V	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	126						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G126V(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ATTACCATTGGGCAAGCCATT	0.448000													26	47					3.73988e-18	6.57006e-18	1	1	0
IL10RA	3587	broad.mit.edu	37	11	117869691	117869691	+	Missense_Mutation	SNP	G	G	T	rs78753252	byFrequency	TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:117869691G>T	ENST00000227752.3	+	7	1192	c.1072G>T	c.(1072-1074)Gac>Tac	p.D358Y	IL10RA_ENST00000545409.1_Missense_Mutation_p.D209Y|IL10RA_ENST00000541785.1_Missense_Mutation_p.D338Y|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	358						integral to membrane|plasma membrane	interleukin-10 receptor activity	p.D358Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGCTGGGGGACAGCTGCAG	0.647000													8	35					1.76689e-08	2.3085e-08	1	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55360355	55360355	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:55360355G>T	ENST00000398661.2	-	8	878	c.747C>A	c.(745-747)gaC>gaA	p.D249E	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.D219E|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.D187E|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.D116E	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	249							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.D249E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCCAATTGTGTCTCCTAGAG	0.413000													24	31					4.7796e-09	6.40565e-09	1	1	0
SI	6476	broad.mit.edu	37	3	164780204	164780204	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:164780204G>T	ENST00000264382.3	-	9	1037	c.975C>A	c.(973-975)atC>atA	p.I325I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	325	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.I325I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCCTAGAAGGATGTAAAAAT	0.313000										HNSCC(35;0.089)			13	40					6.72482e-11	9.40029e-11	1	1	0
APOB	338	broad.mit.edu	37	2	21257763	21257763	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:21257763C>T	ENST00000233242.1	-	8	956	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	APOB_ENST00000399256.4_Missense_Mutation_p.G277R	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	277	Heparin-binding.|Vitellogenin.				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	p.G277R(1)		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)	GCTACCATCCCATACTTATTC	0.448000													36	172					0	0	1	0	0
PFDN2	5202	broad.mit.edu	37	1	161087769	161087769	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:161087769C>A	ENST00000368010.3	-	1	132	c.48G>T	c.(46-48)gcG>gcT	p.A16A	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	16				SGAGKGAVS -> TPRRGRGRCP (in Ref. 2; AAD47084).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding	p.A16A(1)		lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCCCTTCCCCGCGCCGCTCC	0.701000													10	42					4.68919e-08	6.09595e-08	1	1	0
SPRY3	10251	broad.mit.edu	37	X	155003948	155003948	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:155003948C>A	ENST00000302805.2	+	2	846	c.415C>A	c.(415-417)Cac>Aac	p.H139N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	139					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.H139N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTGCAGGGCACCCTAGTGA	0.602000													38	69					1.03484e-13	1.57344e-13	1	1	0
SLC15A1	6564	broad.mit.edu	37	13	99340562	99340562	+	Silent	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:99340562A>T	ENST00000376503.5	-	20	1678	c.1623T>A	c.(1621-1623)ccT>ccA	p.P541P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	541					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.P541P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TATTGAAATTAGGTTGACATT	0.323000													16	79					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128176268	128176268	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:128176268C>T	ENST00000543064.1	-	2	305	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	THEMIS_ENST00000537166.1_Missense_Mutation_p.G18S|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Missense_Mutation_p.G53S	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	53	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.G53S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTTTGAGACCAGTAATTTTA	0.338000													14	25					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:5906021C>G	ENST00000316987.2	+	1	521	c.499C>G	c.(499-501)Cgt>Ggt	p.R167G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453000													23	75					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008387	120008387	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:120008387G>T	ENST00000341846.5	-	1	774	c.353C>A	c.(352-354)cCc>cAc	p.P118H		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	118					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P118H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAAGGTAACGGGTGGCTTCTT	0.617000													69	213					1.70537e-16	2.78865e-16	1	1	0
ZNF660	285349	broad.mit.edu	37	3	44636320	44636320	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:44636320A>G	ENST00000322734.2	+	3	968	c.635A>G	c.(634-636)cAc>cGc	p.H212R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAGAGAATTCACACTGGAGAG	0.378000													3	59					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514154	69514154	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:69514154G>T	ENST00000294312.3	-	3	1292	c.527C>A	c.(526-528)cCt>cAt	p.P176H		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	176					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity	p.P176H(1)		large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GAGGTCCTCAGGCTCCTCTGG	0.587000													29	85					4.2108e-06	4.90945e-06	1	1	0
GLI1	2735	broad.mit.edu	37	12	57858560	57858560	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:57858560C>T	ENST00000228682.2	+	4	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	GLI1_ENST00000546141.1_Missense_Mutation_p.R59C|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	100					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R100C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GACGGTTATCCGCACCTCACC	0.567000													24	55					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77298209	77298209	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:77298209G>T	ENST00000341514.6	+	20	4083	c.3928G>T	c.(3928-3930)Gca>Tca	p.A1310S	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1232S|ATP7A_ENST00000350425.4_Missense_Mutation_p.A313S	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1310					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.A1310S(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CCCAGCTCTGGCAATGGCTAA	0.478000													66	46					6.52717e-41	1.28565e-40	1	1	0
TIMD4	91937	broad.mit.edu	37	5	156381546	156381546	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:156381546C>A	ENST00000274532.2	-	2	336	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	TIMD4_ENST00000407087.3_Missense_Mutation_p.D94Y	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	94	Ig-like V-type.					integral to membrane		p.D94Y(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGAGACATCACCTCTCGGG	0.502000													23	25					3.5997e-14	5.57096e-14	1	1	0
ANKRD44	91526	broad.mit.edu	37	2	197964625	197964625	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:197964625C>A	ENST00000328737.2	-	10	1016	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	ANKRD44_ENST00000409919.1_Missense_Mutation_p.G339C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.G314C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.G331C|ANKRD44_ENST00000539527.1_Missense_Mutation_p.G267C|ANKRD44_ENST00000337207.5_Missense_Mutation_p.G314C|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G339C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	339							protein binding	p.G339C(4)|p.G136C(2)|p.G314C(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGAGTGTTGCCGTCCTTATCC	0.443000													17	53					3.32936e-07	4.12206e-07	1	1	0
SUGT1P3	283507	broad.mit.edu	37	13	41486617	41486617	+	RNA	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:41486617C>T	ENST00000304932.4	-	0	456					NR_003365.2																						TATTTACAGTCCAAGCTCAAC	0.313000													6	7					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182169	182169	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:182169C>A	ENST00000283426.6	+	18	3597	c.3547C>A	c.(3547-3549)Ccc>Acc	p.P1183T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1183	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P1183T(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCACGCCGCCCCCTTCAAGCG	0.607000													29	105					4.2108e-06	4.90945e-06	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78647236	78647236	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:78647236C>A	ENST00000286627.5	-	27	4277	c.3325G>T	c.(3325-3327)Gtg>Ttg	p.V1109L	KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V1167L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1167					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCGTCGGCACGAGCTCAAAC	0.547000													10	24					3.07112e-06	3.6295e-06	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62935842	62935842	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:62935842A>G	ENST00000514591.1	+	25	3955	c.3626A>G	c.(3625-3627)aAt>aGt	p.N1209S	LPHN3_ENST00000512091.1_Silent_p.Q1226Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.N1252S|LPHN3_ENST00000514996.1_Missense_Mutation_p.N1243S|LPHN3_ENST00000514157.1_Silent_p.Q1260Q|LPHN3_ENST00000511324.1_Silent_p.Q1285Q|LPHN3_ENST00000504896.1_Silent_p.Q1269Q|LPHN3_ENST00000508693.1_Silent_p.Q1337Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.N1311S|LPHN3_ENST00000506720.1_Missense_Mutation_p.N1320S|LPHN3_ENST00000509896.1_Silent_p.Q1294Q|LPHN3_ENST00000506700.1_Silent_p.Q1217Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.N1209S|LPHN3_ENST00000507625.1_Missense_Mutation_p.N1268S|LPHN3_ENST00000507164.1_Silent_p.Q1328Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1187					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.Q1226Q(2)|p.N1209S(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCTGAACAATGCCAGGGAT	0.413000													28	40					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		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.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	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)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	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				34	77					6.97489e-18	1.20097e-17	1	1	0
PLD5	200150	broad.mit.edu	37	1	242253245	242253245	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:242253245G>T	ENST00000442594.2	-	11	1755	c.1246C>A	c.(1246-1248)Ccg>Acg	p.P416T	PLD5_ENST00000427495.1_Missense_Mutation_p.P446T|PLD5_ENST00000536534.1_Missense_Mutation_p.P508T	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	508						integral to membrane	catalytic activity	p.P416T(1)|p.P508T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAGCAGTTCGGCTGTTTGGTT	0.458000													64	149					9.39563e-20	1.7083e-19	1	1	0
NRSN2	80023	broad.mit.edu	37	20	333933	333933	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:333933T>C	ENST00000382291.3	+	4	509	c.269T>C	c.(268-270)cTg>cCg	p.L90P	NRSN2_ENST00000382285.2_Missense_Mutation_p.L90P|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	90						integral to membrane|plasma membrane|transport vesicle		p.L90P(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CCCCCCAAGCTGGAGGGCATC	0.647000													31	86					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584986	30584986	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:30584986C>A	ENST00000217299.3	+	3	1640	c.1466C>A	c.(1465-1467)gCg>gAg	p.A489E		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	489						integral to membrane		p.A489E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGCCTCGGCGGGAGAGCGT	0.701000													29	16					1.13719e-10	1.56439e-10	1	1	0
PRND	23627	broad.mit.edu	37	20	4705533	4705533	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:4705533C>T	ENST00000305817.2	+	2	407	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	112	Globular.				protein homooligomerization	anchored to membrane|plasma membrane		p.T112T(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TCAATGCCACCCAGGCGGCGA	0.602000													12	41					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408290	30408290	+	Silent	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:30408290A>T	ENST00000375994.2	+	2	687	c.414A>T	c.(412-414)gcA>gcT	p.A138A	MYLK2_ENST00000375985.4_Silent_p.A138A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	138					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.A138A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCAAGCAGCAGCCAGGAGGG	0.627000													16	29					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462704	216462704	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:216462704G>T	ENST00000366943.2	-	11	2275	c.1889C>A	c.(1888-1890)gCa>gAa	p.A630E	USH2A_ENST00000366942.3_Missense_Mutation_p.A630E|USH2A_ENST00000307340.3_Missense_Mutation_p.A630E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	630	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A630E(1)		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)		CGAAGGATCTGCACCAACTTG	0.413000										HNSCC(13;0.011)			26	66					1.04121e-07	1.34017e-07	1	1	0
SNAP25	6616	broad.mit.edu	37	20	10277675	10277675	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:10277675C>A	ENST00000254976.2	+	6	595	c.384C>A	c.(382-384)gcC>gcA	p.A128A	SNAP25_ENST00000304886.2_Silent_p.A128A|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	128					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.A128A(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGCAGATGGCCATCAGTGGCG	0.498000													9	42					3.07112e-06	3.6295e-06	1	1	0
THBS2	7058	broad.mit.edu	37	6	169648565	169648565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:169648565C>A	ENST00000366787.3	-	4	805	c.556G>T	c.(556-558)Gaa>Taa	p.E186*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	186	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.E186*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGCTCTTTTCCGCCTGCAGG	0.617000													39	84					2.19358e-23	4.13283e-23	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100634871	100634871	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:100634871G>T	ENST00000376335.3	+	1	846	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	185	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G185C(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGGCTGCCCGGCGAGGTGTT	0.711000													5	3					0.014758	0.0151663	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68954074	68954074	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:68954074A>G	ENST00000456315.2	-	5	818	c.704T>C	c.(703-705)aTa>aCa	p.I235T	DEPDC1_ENST00000370966.5_Missense_Mutation_p.I235T	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	235					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.I235T(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GTTTTGTAGTATAACTACTCC	0.333000													15	70					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020531	73020531	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:73020531G>T	ENST00000263674.3	+	1	1198	c.848G>T	c.(847-849)gGt>gTt	p.G283V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	283					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.G283V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACCGAGACGGTGAGGGCGGC	0.677000													13	23					4.36969e-10	5.94827e-10	1	1	0
ZNF223	7766	broad.mit.edu	37	19	44564659	44564659	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:44564659G>T	ENST00000591793.1	+	5	480	c.397G>T	c.(397-399)Ggg>Tgg	p.G133W	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Missense_Mutation_p.G23W|ZNF223_ENST00000434772.3_Missense_Mutation_p.G23W			Q9UK11	ZN223_HUMAN	zinc finger protein 223	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G23W(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGAGGAGCTGGGGCTGCTGGA	0.517000													37	100					6.5261e-18	1.13878e-17	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4736589	4736589	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:4736589G>C	ENST00000545990.2	-	5	2003	c.1479C>G	c.(1477-1479)tcC>tcG	p.S493S	AKAP3_ENST00000228850.1_Silent_p.S493S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S493S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTACTCAAAGGAAATGTCTG	0.458000													11	24					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	853683	853683	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:853683C>A	ENST00000381922.3	-	9	1534	c.1432G>T	c.(1432-1434)Ggc>Tgc	p.G478C	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	478	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.G478C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCGGATGCCGTCCATCTTG	0.582000													13	30					4.3838e-07	5.37636e-07	1	1	0
KRT4	3851	broad.mit.edu	37	12	53201583	53201583	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:53201583G>T	ENST00000293774.4	-	7	1683	c.1413C>A	c.(1411-1413)gcC>gcA	p.A471A	KRT4_ENST00000458244.2_Silent_p.A377A|KRT4_ENST00000551956.1_Silent_p.A397A			B4DRS2	B4DRS2_HUMAN	keratin 4	397						keratin filament	structural molecule activity	p.A471A(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTGCTGTGGGCATCTTTAA	0.562000													17	38					5.03518e-11	7.11493e-11	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123600515	123600515	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:123600515C>A	ENST00000336139.4	-	4	783	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	ZNF202_ENST00000530393.1_Missense_Mutation_p.G141C|ZNF202_ENST00000529691.1_Missense_Mutation_p.G141C			O95125	ZN202_HUMAN	zinc finger protein 202	141					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G141C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTTCCTGGCCGTGAACATGG	0.522000													17	30					7.07596e-05	7.79555e-05	1	1	0
DUSP22	56940	broad.mit.edu	37	6	348916	348916	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:348916C>A	ENST00000604971.1	+	4	1387	c.274C>A	c.(274-276)Ccg>Acg	p.P92T	DUSP22_ENST00000605315.1_Missense_Mutation_p.P92T|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.P92T|DUSP22_ENST00000419235.2_Missense_Mutation_p.P195T|DUSP22_ENST00000605035.1_3'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				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)		GGCACTGGCTCCGCTGACCTA	0.587000													4	23					0.014758	0.0151663	1	1	0
SALL1	6299	broad.mit.edu	37	16	51176012	51176012	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr16:51176012C>G	ENST00000251020.4	-	2	154	c.121G>C	c.(121-123)Gat>Cat	p.D41H	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	41					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D41H(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACGTGGGCATCCTTGCTCTTA	0.458000													28	84					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:7577105G>T	ENST00000420246.2	-	8	965	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000269305.4_Missense_Mutation_p.P278H|TP53_ENST00000359597.4_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	16					2.27111e-07	2.8253e-07	1	1	0
OSR2	116039	broad.mit.edu	37	8	99961644	99961644	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:99961644C>A	ENST00000297565.4	+	2	960	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	OSR2_ENST00000523368.1_Missense_Mutation_p.P155Q|OSR2_ENST00000435298.2_Missense_Mutation_p.P155Q|OSR2_ENST00000457907.2_Missense_Mutation_p.P276Q|OSR2_ENST00000522510.1_Missense_Mutation_p.P155Q	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	155					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.P155Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AAATTGACTCCGGACAGAAAG	0.532000													32	129					4.3181e-19	7.7428e-19	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61511339	61511339	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:61511339C>T	ENST00000266070.4	-	16	6294	c.5969G>A	c.(5968-5970)gGt>gAt	p.G1990D	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1990D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1990	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G1990D(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGTAGTCCACCAAACTGCAG	0.597000													71	152					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037052	75037052	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:75037052G>T	ENST00000326665.5	-	14	4560	c.4342C>A	c.(4342-4344)Caa>Aaa	p.Q1448K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1448	Glu-rich.							p.Q1448K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCTTGCTCCTGTCCT	0.587000													36	116					4.62619e-21	8.59149e-21	1	1	0
GAPVD1	26130	broad.mit.edu	37	9	128094322	128094322	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:128094322G>T	ENST00000470056.1	+	12	2451	c.2291G>T	c.(2290-2292)gGc>gTc	p.G764V	GAPVD1_ENST00000297933.6_Missense_Mutation_p.G764V|GAPVD1_ENST00000495955.1_Missense_Mutation_p.G764V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000394105.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.G764V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.G743V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.G743V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	764					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.G764V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCACACCAGGCCTCAGTGTT	0.507000													7	11					0.00198382	0.00207981	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36679962	36679962	+	Splice_Site	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:36679962G>T	ENST00000265113.4	+	7	1570	c.1094_splice	c.e7+1	p.S365_splice	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Splice_Site_p.S365_splice	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	365					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S365I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ACCTCTTCAAGGTATGTATGT	0.453000													28	19					2.41591e-17	4.10547e-17	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101075568	101075568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:101075568G>A	ENST00000369162.2	-	29	4884	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1514*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACTGATGGTCGGAAGTTAAAC	0.363000													8	27					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87168583	87168583	+	Splice_Site	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:87168583C>A	ENST00000265724.3	-	20	2815		c.e20+1		ABCB1_ENST00000543898.1_Splice_Site	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GATAGACATACCTGTCTGAGC	0.542000													8	20					2.17888e-05	2.46308e-05	1	1	0
TCTN3	26123	broad.mit.edu	37	10	97440280	97440280	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:97440280C>T	ENST00000265993.8	-	13	1782	c.1539G>A	c.(1537-1539)ccG>ccA	p.P513P	TCTN3_ENST00000430368.1_Silent_p.P365P|TCTN3_ENST00000371217.4_Silent_p.P526P	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptosis	integral to membrane		p.P513P(2)|p.P335P(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CATGAGCTTGCGGGTTGGACA	0.463000													5	164					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491582	71491582	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:71491582C>A	ENST00000296755.7	+	5	2698	c.2400C>A	c.(2398-2400)ggC>ggA	p.G800G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	800						microtubule|microtubule associated complex	structural molecule activity	p.G800G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCTGTCGGCACTGGAGCCA	0.542000													20	28					1.9806e-07	2.49779e-07	1	1	0
CHRNB3	1142	broad.mit.edu	37	8	42591742	42591742	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:42591742G>T	ENST00000289957.2	+	6	1486	c.1358G>T	c.(1357-1359)tGg>tTg	p.W453L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	453					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.W453L(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTGAAGATGTGGCTACATAGT	0.398000													32	125					2.20474e-14	3.43252e-14	1	1	0
OR2AG1	144125	broad.mit.edu	37	11	6806406	6806406	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:6806406C>A	ENST00000307401.4	+	1	159	c.138C>A	c.(136-138)ctC>ctA	p.L46L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTACTGCTCCTGGCTATCA	0.522000													31	104					2.80507e-11	4.02938e-11	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52252232	52252232	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:52252232G>T	ENST00000356297.4	-	21	4198	c.4098C>A	c.(4096-4098)agC>agA	p.S1366R	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1366					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S1366R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCAAACGTGCTGAAATCTT	0.378000													24	73					5.35356e-11	7.52392e-11	1	1	0
RP1	6101	broad.mit.edu	37	8	55542556	55542556	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:55542556C>A	ENST00000220676.1	+	4	6262	c.6114C>A	c.(6112-6114)caC>caA	p.H2038Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2038					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.H2038Q(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTCTTGCACACATCATTGT	0.333000													16	57					5.03518e-11	7.11493e-11	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151771964	151771964	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:151771964G>T	ENST00000255262.3	-	4	1201	c.1036C>A	c.(1036-1038)Cac>Aac	p.H346N		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	346					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.H346N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CACTGTTTGTGGAAAGAAGAG	0.512000													30	42					5.77227e-19	1.02794e-18	1	1	0
TENM3	55714	broad.mit.edu	37	4	183713936	183713936	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:183713936G>T	ENST00000511685.1	+	26	6234	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	TENM3_ENST00000406950.2_Silent_p.T2037T					teneurin transmembrane protein 3									p.T2037T(2)									TCAATGAAACGCCACTGCCTA	0.383000													19	89					8.10497e-08	1.0484e-07	1	1	0
PCF11	51585	broad.mit.edu	37	11	82876987	82876987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:82876987G>T	ENST00000298281.4	+	5	1500	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	350	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.E449*(1)|p.E350*(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TAAATCAGGTGAAAAAATAAC	0.303000													3	11					0.00024832	0.000264603	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117045738	117045738	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:117045738G>A	ENST00000355044.3	+	15	2372	c.2246G>A	c.(2245-2247)gGa>gAa	p.G749E		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	749	PSI 3.					integral to membrane	sugar binding	p.G749E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CATCTTTGTGGAGAAGGATGG	0.303000													7	31					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869678	22869678	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:22869678C>A	ENST00000302097.3	-	2	529	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V93L(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATAGAGGTCACATGATTTGCA	0.468000													24	79					1.1804e-14	1.86002e-14	1	1	0
JAK2	3717	broad.mit.edu	37	9	5050756	5050756	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:5050756G>C	ENST00000381652.3	+	6	1033	c.539G>C	c.(538-540)gGg>gCg	p.G180A	JAK2_ENST00000539801.1_Missense_Mutation_p.G180A|JAK2_ENST00000544510.1_Missense_Mutation_p.G31A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	180	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.G180A(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAATGTCTTGGGATGGCAGTG	0.388000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				19	33					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889896	30889896	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:30889896G>T	ENST00000475541.1	-	1	1335	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	PURG_ENST00000339382.2_Silent_p.R135R	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	135						nucleus	DNA binding	p.R135R(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TGCTCTTGCCGGTGGCCTTTC	0.597000													36	108					2.6416e-12	3.92466e-12	1	1	0
GAS7	8522	broad.mit.edu	37	17	9850262	9850262	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:9850262C>A	ENST00000396115.1	-	6	694	c.384G>T	c.(382-384)ccG>ccT	p.P128P	GAS7_ENST00000432992.2_Silent_p.P188P|GAS7_ENST00000585266.1_Silent_p.P124P|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Silent_p.P124P|GAS7_ENST00000542249.1_Silent_p.P133P|GAS7_ENST00000583882.1_Silent_p.P48P|GAS7_ENST00000580865.1_Silent_p.P48P|GAS7_ENST00000323816.4_Silent_p.P124P|GAS7_ENST00000579158.1_Silent_p.P140P|GAS7_ENST00000578655.1_5'UTR	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	188					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.P188P(2)|p.P48P(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCTGCTGTTCCGGCATCGTGT	0.572000			T	MLL	AML*								10	29					6.40141e-05	7.08241e-05	1	1	0
COMMD3	23412	broad.mit.edu	37	10	22607738	22607738	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:22607738A>G	ENST00000376836.3	+	6	859	c.415A>G	c.(415-417)Aat>Gat	p.N139D	COMMD3-BMI1_ENST00000602390.1_Intron|COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR	NM_012071.3	NP_036203.1			COMM domain containing 3									p.N139D(1)		kidney(2)|lung(2)|ovary(1)	5						ATTTTAGACCAATCAACTTCA	0.323000													41	79					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27182086	27182086	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:27182086G>A	ENST00000254928.5	+	1	131	c.34G>A	c.(34-36)Gtt>Att	p.V12I	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	12					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	p.V12I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGCTAGGCTTGTTCAATCGGT	0.612000													12	33					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813976	248813976	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:248813976G>T	ENST00000344889.3	-	1	209	c.210C>A	c.(208-210)gaC>gaA	p.D70E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATACAGGATGTCCCTGAGGG	0.537000													4	36					4.3838e-07	5.37636e-07	1	1	0
DPYSL3	1809	broad.mit.edu	37	5	146780281	146780281	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:146780281T>G	ENST00000343218.5	-	10	1623	c.1426A>C	c.(1426-1428)Atg>Ctg	p.M476L	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.M362L	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	362					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	p.M362L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAGACATCCGCTCCTCC	0.567000													18	27					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93744142	93744142	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:93744142T>C	ENST00000265990.6	+	19	2716	c.2408T>C	c.(2407-2409)aTa>aCa	p.I803T	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	803					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.I803T(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTTAACAATAGATCAAGCT	0.299000													5	22					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078489	75078489	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:75078489G>C	ENST00000326665.5	-	9	1223	c.1005C>G	c.(1003-1005)acC>acG	p.T335T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.T138T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	335								p.T335T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAAACTGAAAGGTCTCTGGAA	0.353000													9	29					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18272854	18272854	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:18272854G>T	ENST00000593731.1	+	7	1454	c.894G>T	c.(892-894)gcG>gcT	p.A298A	PIK3R2_ENST00000222254.7_Silent_p.A298A			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	298					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.A298A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						AGGAGGTTGCGCCCCCAGGTG	0.607000													11	25					1.08611e-07	1.3775e-07	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64491115	64491115	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:64491115C>T	ENST00000355086.3	+	15	2297	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	SRGAP1_ENST00000357825.3_Silent_p.L568L|SRGAP1_ENST00000543397.1_Silent_p.L528L|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	591	Rho-GAP.				axon guidance	cytosol		p.L591L(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAACCCCCTCTTTCCTAAGG	0.393000													12	42					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764230	140764230	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:140764230G>C	ENST00000518325.1	+	1	1764	c.1764G>C	c.(1762-1764)gtG>gtC	p.V588V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1												p.V588V(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACCTGGTGACCAAGGTGG	0.622000													25	48					0	0	1	0	0
UTS2B	257313	broad.mit.edu	37	3	190993099	190993099	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:190993099C>A	ENST00000340524.5	-	8	1062	c.276G>T	c.(274-276)aaG>aaT	p.K92N	UTS2B_ENST00000427544.2_Missense_Mutation_p.K92N	NM_198152.3	NP_937795.2			urotensin 2B									p.K92N(1)									TCTCAGAATCCTTCTCCTCCA	0.393000													50	57					9.22156e-22	1.7249e-21	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186672011	186672011	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:186672011C>A	ENST00000343098.5	+	17	18245	c.18245C>A	c.(18244-18246)aCa>aAa	p.T6082K	FSIP2_ENST00000424728.1_Missense_Mutation_p.T5993K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T691K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGGCCCAAACAGCCAGCAAA	0.353000													32	94					1.06801e-11	1.56883e-11	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													3	63					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1098690	1098690	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:1098690G>C	ENST00000441003.2	+	37	7087	c.7060G>C	c.(7060-7062)Gcc>Ccc	p.A2354P	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4716						inner mucus layer|outer mucus layer	protein binding	p.A2354P(1)		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)	CTACTACGATGCCTGCGTGTT	0.647000													5	12					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340607	136340607	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:136340607G>T	ENST00000371899.4	-	5	766	c.689C>A	c.(688-690)gCc>gAc	p.A230D	SLC2A6_ENST00000371897.4_Missense_Mutation_p.A230D|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	230						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	p.A230D(3)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCCCGCAGGGCCTCTTCGTC	0.667000													4	12					0.00024832	0.000264603	1	1	0
DST	667	broad.mit.edu	37	6	56485422	56485422	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:56485422G>T	ENST00000370765.6	-	23	3517	c.3410C>A	c.(3409-3411)aCa>aAa	p.T1137K	DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1466					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	p.T1137K(2)		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)			TATCTTTCCTGTAAGTTTGCT	0.423000													44	139					6.21074e-16	9.96786e-16	1	1	0
CAT	847	broad.mit.edu	37	11	34478364	34478364	+	Splice_Site	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:34478364G>T	ENST00000241052.4	+	8	1145	c.1056_splice	c.e8+1	p.Q352_splice		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	352					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.Q352H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAATGCTTCAGGTGAGCCTGG	0.468000													14	34					2.23348e-06	2.66379e-06	1	1	0
VAX1	11023	broad.mit.edu	37	10	118897464	118897464	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:118897464G>T	ENST00000277905.2	-	1	348	c.104C>A	c.(103-105)gCg>gAg	p.A35E	VAX1_ENST00000369206.5_Missense_Mutation_p.A35E	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	35						nucleus	sequence-specific DNA binding	p.A35E(2)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GTTCCCCTCCGCGCCCTTGCT	0.612000													22	63					9.57634e-11	1.32439e-10	1	1	0
TBC1D14	57533	broad.mit.edu	37	4	7006648	7006648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:7006648G>T	ENST00000409757.4	+	8	1472	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	TBC1D14_ENST00000451522.2_Nonsense_Mutation_p.E170*|TBC1D14_ENST00000410031.1_Nonsense_Mutation_p.E222*|TBC1D14_ENST00000448507.1_Nonsense_Mutation_p.E450*|TBC1D14_ENST00000446947.2_Nonsense_Mutation_p.E63*	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	450	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.E435*(1)|p.E435K(1)|p.E450*(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AGTGGAGAACGAAGGTAGAAT	0.458000													23	50					1.55795e-14	2.44016e-14	1	1	0
SDK2	54549	broad.mit.edu	37	17	71391459	71391459	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:71391459C>A	ENST00000392650.3	-	25	3427	c.3427G>T	c.(3427-3429)Ggg>Tgg	p.G1143W	SDK2_ENST00000388726.3_Missense_Mutation_p.G1143W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1143	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.G1143W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTGCCATGCCCGTCTGACCGG	0.617000													10	29					1.76689e-08	2.3085e-08	1	1	0
CRISP3	10321	broad.mit.edu	37	6	49704164	49704164	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:49704164C>A	ENST00000433368.2	-	3	267	c.198G>T	c.(196-198)gtG>gtT	p.V66V	CRISP3_ENST00000393666.1_Silent_p.V43V|CRISP3_ENST00000263045.4_Silent_p.V56V|CRISP3_ENST00000371159.4_Silent_p.V74V|CRISP3_ENST00000423399.2_Intron	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	43					innate immune response	proteinaceous extracellular matrix|specific granule		p.V43V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTGCTTATTCACAATCTCCC	0.413000													56	144					2.12129e-23	4.0258e-23	1	1	0
ZNF397	84307	broad.mit.edu	37	18	32823239	32823239	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr18:32823239T>C	ENST00000330501.7	+	3	691	c.538T>C	c.(538-540)Tgc>Cgc	p.C180R	ZNF397_ENST00000591206.1_Missense_Mutation_p.C180R|ZNF397_ENST00000592264.1_Missense_Mutation_p.C180R|ZNF397_ENST00000585800.1_Missense_Mutation_p.C180R|ZNF397_ENST00000355632.4_Missense_Mutation_p.C180R|ZNF397_ENST00000261333.6_Missense_Mutation_p.C180R|ZNF397_ENST00000589420.1_3'UTR	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	180					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C180R(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CTGGAAACCATGCCTTTCCCC	0.443000													23	68					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891421	44891421	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:44891421G>A	ENST00000330997.4	-	4	1050	c.986C>T	c.(985-987)tCt>tTt	p.S329F	ZNF285_ENST00000591679.1_Missense_Mutation_p.S336F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S329F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285									p.S329F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTGAAGGGAAGAGCTGCGCCT	0.478000													25	52					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014864	7014864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:7014864G>T	ENST00000007969.8	+	2	287	c.67G>T	c.(67-69)Gag>Tag	p.E23*	LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E23*|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E23*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	23								p.E23*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agaagaggacgagaaggagac	0.517000													11	48					1.08611e-07	1.3775e-07	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399577	89399577	+	RNA	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:89399577G>A	ENST00000479981.1	-	0	152																											GACAAGTGATGGTGACTCTGT	0.483000													79	113					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623844	623844	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:623844G>C	ENST00000262109.7	-	4	585	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	ERICH1_ENST00000522706.1_Missense_Mutation_p.Q76E	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	170								p.Q170E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTTTTAATTTGCTGTTTCTTT	0.468000													11	65					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751709	140751709	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:140751709A>T	ENST00000576222.1	+	1	1879	c.1748A>T	c.(1747-1749)gAg>gTg	p.E583V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTGCAGAGCCTGGCTAC	0.647000													19	34					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47775959	47775959	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:47775959G>C	ENST00000489301.2	+	5	911	c.826G>C	c.(826-828)Gct>Cct	p.A276P	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A276P|OPN5_ENST00000393699.2_Missense_Mutation_p.A276P			Q6U736	OPN5_HUMAN	opsin 5	276					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A276P(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTGTGGTCAGCTTTTGGAAG	0.463000													36	102					0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7193996	7193996	+	RNA	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrY:7193996G>T	ENST00000528056.1	+	0	726					NR_028062.1													p.V129L(1)		large_intestine(2)|lung(3)|skin(1)	6						CATGGAGTATGTGCCGGGTGG	0.622000													21	8					7.41877e-09	9.84123e-09	1	1	0
PIGN	23556	broad.mit.edu	37	18	59828461	59828461	+	Silent	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr18:59828461T>A	ENST00000357637.5	-	4	541	c.126A>T	c.(124-126)ccA>ccT	p.P42P	PIGN_ENST00000400334.3_Silent_p.P42P	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	42					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.P42P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCTTCTCGCTGGAGGAGGCA	0.403000													9	28					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230472	36230472	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:36230472C>A	ENST00000303965.4	-	2	1126	c.637G>T	c.(637-639)Gac>Tac	p.D213Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	213					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.D213Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATTCAGAGTCTGCATTAGGG	0.368000													79	99					1.42074e-37	2.77738e-37	1	1	0
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:7577138C>A	ENST00000420246.2	-	8	932	c.800G>T	c.(799-801)cGg>cTg	p.R267L	TP53_ENST00000269305.4_Missense_Mutation_p.R267L|TP53_ENST00000359597.4_Missense_Mutation_p.R267L|TP53_ENST00000455263.2_Missense_Mutation_p.R267L|TP53_ENST00000445888.2_Missense_Mutation_p.R267L|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAAGCTGTTCCGTCCCAGTAG	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	18					0.004672	0.00487839	1	1	0
IGHG3	3502	broad.mit.edu	37	14	106235814	106235814	+	RNA	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr14:106235814C>A	ENST00000390551.2	-	0	892																											AGCCTTTGACCAGGCAGGTCA	0.627000													58	87					6.09941e-20	1.11679e-19	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135549152	135549152	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:135549152G>T	ENST00000513104.1	-	12	2842	c.2560C>A	c.(2560-2562)Ctg>Atg	p.L854M	TRPC7_ENST00000355180.3_Missense_Mutation_p.L793M|TRPC7_ENST00000426057.2_Missense_Mutation_p.L738M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	854					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.L854M(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCACCCTCAGGTGGTCTTTG	0.498000													6	10					1	1	1	1	0
NUDT17	200035	broad.mit.edu	37	1	145586946	145586946	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:145586946G>T	ENST00000334513.5	-	7	753	c.742C>A	c.(742-744)Cta>Ata	p.L248I		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	248							hydrolase activity|metal ion binding	p.L248I(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTCCTCTAGTTCCACTGCA	0.532000													30	89					3.99451e-17	6.70047e-17	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115418714	115418714	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:115418714C>G	ENST00000369522.3	+	10	922	c.682C>G	c.(682-684)Ctt>Gtt	p.L228V	SYCP1_ENST00000369518.1_Missense_Mutation_p.L228V	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	228					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.L228V(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTGAGGAACTTCGTGTGCA	0.259000													17	47					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346633	56346633	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:56346633G>A	ENST00000331886.5	+	21	2313	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	DGKA_ENST00000551156.1_Missense_Mutation_p.G620E|DGKA_ENST00000394147.1_Missense_Mutation_p.G620E|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	620					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.G620E(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGACCCCATGGGGATATCTAT	0.532000													32	142					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319603	21319603	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:21319603C>A	ENST00000583088.1	+	3	1844	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L317M	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.L317M(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAGCTCCTACCTGGCCAATGA	0.582000										Prostate(3;0.18)			7	110					0.000157383	0.000170499	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38237654	38237654	+	Silent	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:38237654T>C	ENST00000379705.3	-	6	2444	c.1587A>G	c.(1585-1587)gcA>gcG	p.A529A	TRPC4_ENST00000379681.3_Silent_p.A529A|TRPC4_ENST00000358477.2_Silent_p.A529A|TRPC4_ENST00000338947.5_Silent_p.A356A|TRPC4_ENST00000379679.1_Silent_p.A356A|TRPC4_ENST00000355779.2_Silent_p.A529A|TRPC4_ENST00000447043.1_Silent_p.A529A|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Silent_p.A529A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	529					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.A529A(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATTTGCAAATGCTAGCAACA	0.373000													23	26					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33497247	33497247	+	Silent	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:33497247C>G	ENST00000268876.5	+	12	1759	c.1662C>G	c.(1660-1662)gcC>gcG	p.A554A	UNC45B_ENST00000394570.2_Silent_p.A554A|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Silent_p.A554A|UNC45B_ENST00000378449.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	554					cell differentiation|muscle organ development	cytosol	binding	p.A554A(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACGTCCCTGCCCTGCAGGCCA	0.627000													7	27					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225739438	225739438	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:225739438C>A	ENST00000409592.3	-	9	1057	c.944G>T	c.(943-945)tGc>tTc	p.C315F	DOCK10_ENST00000258390.7_Missense_Mutation_p.C321F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	321							GTP binding	p.C321F(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTGGCGTGCATTCACAAGT	0.363000													24	74					3.6726e-16	5.93091e-16	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668353	53668353	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:53668353C>G	ENST00000600412.1	-	2	1310	c.1195G>C	c.(1195-1197)Ggt>Cgt	p.G399R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G464R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G464R(1)|p.G399R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAGACCTTACCGCAGTCATTA	0.438000													26	89					0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19177405	19177405	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:19177405C>T	ENST00000446113.2	+	9	1057	c.936C>T	c.(934-936)ttC>ttT	p.F312F	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Silent_p.F182F	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	312					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	p.F312F(1)|p.F182F(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TATTGGACTTCAATTCAGATT	0.353000													20	30					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128913089	128913089	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:128913089A>G	ENST00000375990.3	+	20	2495	c.2092A>G	c.(2092-2094)Aga>Gga	p.R698G	UGGT1_ENST00000259253.6_Missense_Mutation_p.R722G			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	722					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.R722G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGATTATGCTAGATTTACTAT	0.343000													15	53					0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113907096	113907096	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:113907096C>A	ENST00000261731.3	-	2	801	c.228G>T	c.(226-228)ctG>ctT	p.L76L		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	76	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L76L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CCTTGCGCACCAGGTCGCTGG	0.602000													18	53					8.04996e-18	1.37697e-17	1	1	0
TXNL4B	54957	broad.mit.edu	37	16	72124580	72124580	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr16:72124580C>A	ENST00000268483.3	-	2	390	c.69G>T	c.(67-69)gaG>gaT	p.E23D	TXNL4B_ENST00000423037.1_Missense_Mutation_p.E23D|TXNL4B_ENST00000426362.2_Missense_Mutation_p.E23D	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	23					mitosis|mRNA processing|RNA splicing	spliceosomal complex		p.E23D(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						CCAACACCTTCTCAGCAGTAC	0.393000													21	55					1.50039e-11	2.17934e-11	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923271	24923271	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:24923271G>T	ENST00000329468.2	+	1	2731	c.2257G>T	c.(2257-2259)Gtc>Ttc	p.V753F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V753F(1)									TGCACAGTCAGTCAGGGCACC	0.567000													41	114					4.14481e-20	7.64291e-20	1	1	0
C10orf11	83938	broad.mit.edu	37	10	78317043	78317043	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:78317043C>T	ENST00000496424.2	+	3	1041	c.165C>T	c.(163-165)ctC>ctT	p.L55L	C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000372499.1_Silent_p.L198L			Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	198								p.L198L(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					ATGACCAGCTCTGAAGCCAAC	0.388000													11	20					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830115	49830115	+	RNA	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:49830115C>T	ENST00000527477.1	+	0	1446																											GCTGCACATGCCCCAGCCTCT	0.463000													3	29					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53036592	53036592	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:53036592G>A	ENST00000378037.5	+	5	1288	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CKAP2_ENST00000490903.1_Missense_Mutation_p.E351K|CKAP2_ENST00000378034.3_Missense_Mutation_p.E399K|CKAP2_ENST00000258607.5_Missense_Mutation_p.E399K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	400					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.E399K(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AGGACAAAATGAAAAACCAGT	0.408000													13	31					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27140486	27140486	+	Silent	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:27140486T>C	ENST00000222718.5	-	2	1300	c.990A>G	c.(988-990)acA>acG	p.T330T		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	330						nucleus	sequence-specific DNA binding transcription factor activity	p.T330T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGCAGGAATCTGTGGAGAAAA	0.502000													26	30					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712181	41712181	+	Silent	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:41712181G>A	ENST00000373025.3	-	3	344	c.282C>T	c.(280-282)tcC>tcT	p.S94S	PGC_ENST00000425343.2_Silent_p.S94S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	94					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.S94S(2)		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)			ACAAGTTGGAGGAGCCGGTGT	0.602000													21	51					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702858	181702858	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:181702858C>T	ENST00000526775.1	+	20	3342	c.3177C>T	c.(3175-3177)gaC>gaT	p.D1059D	CACNA1E_ENST00000360108.3_Silent_p.D1059D|CACNA1E_ENST00000367570.1_Silent_p.D1078D|CACNA1E_ENST00000367567.4_Silent_p.D685D|CACNA1E_ENST00000367573.2_Silent_p.D1078D|CACNA1E_ENST00000357570.5_Silent_p.D1029D|CACNA1E_ENST00000358338.5_Silent_p.D1010D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1078					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1078D(2)		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						CCGACGTGGACCCCTTGGTGG	0.622000													6	12					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237415899	237415899	+	Splice_Site	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:237415899C>A	ENST00000409907.3	-	1	286		c.e1+1		IQCA1_ENST00000309507.5_Splice_Site|IQCA1_ENST00000431676.2_Splice_Site			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding	p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CCATCACTTACGCGTTCGACA	0.537000													6	25					3.59834e-05	4.03262e-05	1	1	0
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:16287667C>T	ENST00000343518.6	-	1	270	c.219G>A	c.(217-219)agG>agA	p.R73R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577000													59	288					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877096	144877096	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:144877096G>T	ENST00000369359.4	-	31	5037	c.4999C>A	c.(4999-5001)Cgg>Agg	p.R1667R	PDE4DIP_ENST00000313382.9_Silent_p.R1487R|PDE4DIP_ENST00000369356.4_Silent_p.R1531R|PDE4DIP_ENST00000530740.1_Silent_p.R1667R|PDE4DIP_ENST00000369354.3_Silent_p.R1531R|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1531					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1531R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTGCTCCCGGAAGCTCTGT	0.493000			T	PDGFRB	MPD								11	44					5.50884e-06	6.3376e-06	1	1	0
FBXO2	26232	broad.mit.edu	37	1	11709842	11709842	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:11709842T>A	ENST00000354287.4	-	4	952	c.611A>T	c.(610-612)aAg>aTg	p.K204M		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	204	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	p.K204M(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCAGTCCTTCACCACGAT	0.662000													7	50					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7495160	7495160	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:7495160A>T	ENST00000250113.7	-	17	2344	c.2010T>A	c.(2008-2010)aaT>aaA	p.N670K	FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	670						cytosolic large ribosomal subunit	protein binding|RNA binding	p.N670K(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATGAAACCCCATTCACCATAC	0.592000													9	17					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869526	86869526	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:86869526G>C	ENST00000373119.4	+	3	825	c.680G>C	c.(679-681)gGa>gCa	p.G227A	KLHL4_ENST00000373114.4_Missense_Mutation_p.G227A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	227	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G227A(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGATGGAAGGAGTAGATCCA	0.398000													26	10					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847646	22847646	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:22847646C>A	ENST00000456783.2	+	4	1419	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P392H(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATGT	0.383000													8	41					3.86212e-05	4.30966e-05	1	1	0
KCNQ1	3784	broad.mit.edu	37	11	2591907	2591907	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:2591907G>C	ENST00000155840.5	+	3	635	c.527G>C	c.(526-528)tGg>tCg	p.W176S	KCNQ1_ENST00000335475.5_Missense_Mutation_p.W49S	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	176					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	p.W176S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTCCGCCTCTGGTCCGCCGGC	0.657000													8	27					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454814	84454814	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:84454814G>T	ENST00000377084.2	-	1	1714	c.829C>A	c.(829-831)Caa>Aaa	p.Q277K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	277						integral to membrane		p.Q277K(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)		GTCTCTTCTTGGGCAGGGGGC	0.542000													21	28					7.41877e-09	9.84123e-09	1	1	0
RPLP0	6175	broad.mit.edu	37	12	120636469	120636469	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:120636469A>C	ENST00000551150.1	-	5	854	c.539T>G	c.(538-540)aTc>aGc	p.I180S	RPLP0_ENST00000228306.4_Missense_Mutation_p.I180S|RPLP0_ENST00000392514.4_Missense_Mutation_p.I180S|RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000313104.5_Intron			P05388	RLA0_HUMAN	ribosomal protein, large, P0	180					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	p.I180S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGGGGGAGATGTTGAGCAT	0.507000													17	48					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345795	11345795	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:11345795G>T	ENST00000376810.5	+	2	950	c.624G>T	c.(622-624)ggG>ggT	p.G208G	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	208					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	p.G208G(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCCAGGTGGGGTCCCTGGCCA	0.597000													15	72					7.05477e-17	1.17579e-16	1	1	0
SEC14L4	284904	broad.mit.edu	37	22	30886131	30886131	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:30886131T>G	ENST00000540456.1	-	13	1332	c.1139A>C	c.(1138-1140)cAg>cCg	p.Q380P	SEC14L4_ENST00000255858.7_Missense_Mutation_p.Q395P|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000392772.2_Silent_p.R356R			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	395	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity	p.Q395P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CTTGAGACTCTGCAGCGTCTC	0.607000													7	21					0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514537	58514537	+	Silent	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:58514537G>A	ENST00000370996.3	-	1	815	c.450C>T	c.(448-450)ttC>ttT	p.F150F	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	150					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.F150F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AATGCAGGGTGAACTCCAGGT	0.672000													8	22					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792128	8792128	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:8792128C>G	ENST00000447110.1	-	10	1100	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E326Q|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E326Q	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	326				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus		p.E326Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctcctcctcttcctcc	0.577000													10	19					0	0	1	0	0
INSIG2	51141	broad.mit.edu	37	2	118854157	118854157	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:118854157C>T	ENST00000245787.4	+	2	231	c.25C>T	c.(25-27)Cct>Tct	p.P9S	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	9					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		p.P9S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GACAGAGTCACCTGGGCCCAA	0.418000													23	59					0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73008274	73008274	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:73008274G>T	ENST00000393590.2	+	2	1010	c.711G>T	c.(709-711)gcG>gcT	p.A237A	P2RY6_ENST00000538328.1_Silent_p.A237A|P2RY6_ENST00000542092.1_Silent_p.A237A|P2RY6_ENST00000393591.1_Silent_p.A237A|P2RY6_ENST00000540342.1_Silent_p.A237A|P2RY6_ENST00000393592.2_Silent_p.A237A|P2RY6_ENST00000540124.1_Silent_p.A237A|P2RY6_ENST00000349767.2_Silent_p.A237A	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	237					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A237A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GTGGCAAGGCGGCCCGCATGG	0.687000													31	80					8.16721e-17	1.35253e-16	1	1	0
FAT1	2195	broad.mit.edu	37	4	187584546	187584546	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:187584546C>A	ENST00000441802.2	-	3	3696	c.3487G>T	c.(3487-3489)Gca>Tca	p.A1163S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1163	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.A1163S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ggatcaaatgcctcgatctgg	0.393000										HNSCC(5;0.00058)			17	55					5.3912e-06	6.22984e-06	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27182452	27182452	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:27182452C>A	ENST00000335625.5	+	8	1589	c.701C>A	c.(700-702)aCt>aAt	p.T234N	GABRA5_ENST00000355395.5_Missense_Mutation_p.T234N|GABRA5_ENST00000400081.3_Missense_Mutation_p.T234N|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	234					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T234N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACGGTGGGCACTGAGAACATC	0.627000													10	23					0.0135373	0.0140227	1	1	0
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	C	T	rs147550190		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:124487352C>T	ENST00000284288.2	+	3	574	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	169					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.S169S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	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;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458000													22	44					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201596	247201596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:247201596C>A	ENST00000366503.2	-	4	483	c.325G>T	c.(325-327)Gga>Tga	p.G109*		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G109*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAGACTTTTCCACACACACTG	0.393000													34	130					3.11337e-16	5.05923e-16	1	1	0
STK32C	282974	broad.mit.edu	37	10	134038769	134038769	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:134038769C>A	ENST00000368622.1	-	7	874	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	STK32C_ENST00000368625.4_Missense_Mutation_p.G295W			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	282	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G282W(1)|p.G295W(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCCATCACCCCCACCGACCAC	0.622000													4	13					0.00024832	0.000264603	1	1	0
GLI1	2735	broad.mit.edu	37	12	57858976	57858976	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:57858976G>T	ENST00000228682.2	+	5	563	c.472G>T	c.(472-474)Gac>Tac	p.D158Y	GLI1_ENST00000546141.1_Missense_Mutation_p.D117Y|GLI1_ENST00000543426.1_Missense_Mutation_p.D30Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	158					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.D158Y(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGTCCCCATGACTCTGCCCG	0.597000													9	32					1.58986e-06	1.91373e-06	1	1	0
BICC1	80114	broad.mit.edu	37	10	60272985	60272985	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:60272985G>T	ENST00000373886.3	+	1	86	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	28					multicellular organismal development		RNA binding	p.V28L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CGACTCCCCAGTGCCCGGCTC	0.721000													7	16					0.0293803	0.0299564	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84403666	84403666	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:84403666C>A	ENST00000260505.8	-	8	1134	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	253	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.V253L(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGCTTGTTCACGGAGTAGTTT	0.398000													24	78					9.95505e-16	1.57824e-15	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30936032	30936032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:30936032C>A	ENST00000355537.3	+	2	1710	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Y521*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAACAGCTACCAGGCTTGGC	0.607000													18	77					1.87028e-06	2.24089e-06	1	1	0
HTRA1	5654	broad.mit.edu	37	10	124249025	124249025	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:124249025C>A	ENST00000368984.3	+	3	788	c.660C>A	c.(658-660)caC>caA	p.H220Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	220	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAAATGCCCACGTGGTGACCA	0.498000													3	77					1	1	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102247541	102247541	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:102247541T>A	ENST00000369138.1	+	7	1460	c.970T>A	c.(970-972)Tat>Aat	p.Y324N	GRIK2_ENST00000421544.1_Missense_Mutation_p.Y324N|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y324N|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y324N|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y275N|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y324N	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	324					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Y324N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCTCTAATGTATGATGCTGT	0.458000													37	87					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922411	24922411	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:24922411C>A	ENST00000329468.2	+	1	1871	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P466H(1)									CTGGCTCTTCCTGCTGACCTT	0.493000													35	116					4.3181e-19	7.7428e-19	1	1	0
MYH3	4621	broad.mit.edu	37	17	10544690	10544690	+	Splice_Site	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:10544690C>A	ENST00000583535.1	-	18	2047		c.e18-1		MYH3_ENST00000226209.7_Splice_Site	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.?(1)		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						TCAGGTTTTCCTAAGAGAAAA	0.333000													30	65					1.80694e-10	2.47266e-10	1	1	0
DAK	26007	broad.mit.edu	37	11	61110891	61110891	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:61110891A>C	ENST00000394900.3	+	11	1172	c.943A>C	c.(943-945)Acc>Ccc	p.T315P		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	315	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTTCTCTCACCCTCCTGCT	0.592000													8	102					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190832	49190832	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:49190832G>T	ENST00000406846.2	-	10	1247	c.1128C>A	c.(1126-1128)gcC>gcA	p.A376A	FSHR_ENST00000541117.1_Silent_p.A112A|FSHR_ENST00000304421.4_Silent_p.A350A|FSHR_ENST00000346173.3_Silent_p.A314A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	376					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.A376A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCCCAGTGATGGCCAGGATGC	0.478000									Gonadal Dysgenesis, 46 XX				20	47					3.99206e-14	6.14163e-14	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66358319	66358319	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:66358319C>T	ENST00000333861.3	-	1	2235	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	723								p.R723Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCAGGGCCCGCTCCCAGGC	0.552000													44	94					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493522	20493522	+	Splice_Site	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:20493522T>C	ENST00000504154.1	+	9	1166	c.914_splice	c.e9+1	p.I305_splice	SLIT2_ENST00000503837.1_Splice_Site_p.I309_splice|SLIT2_ENST00000273739.5_Splice_Site_p.I309_splice|SLIT2_ENST00000503823.1_Splice_Site_p.I305_splice	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	305					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.I305T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCACAGAAATGTATGTGCCT	0.458000													23	103					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42965887	42965887	+	Silent	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:42965887C>G	ENST00000217043.2	+	1	262	c.90C>G	c.(88-90)acC>acG	p.T30T		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	30						extracellular region	peptidase inhibitor activity	p.T30T(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CTAATGCTACCCCAGCCCCGG	0.652000													27	20					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52844156	52844156	+	Silent	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:52844156A>G	ENST00000351072.1	+	4	285	c.219A>G	c.(217-219)tcA>tcG	p.S73S	XAGE5_ENST00000425386.1_Silent_p.S73S|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Silent_p.S73S|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	73								p.S73S(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TGTCTCAGTCAAAGACTGGGG	0.443000													12	9					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194740	27194740	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:27194740T>C	ENST00000242159.3	-	2	614	c.481A>G	c.(481-483)Att>Gtt	p.I161V	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	161					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.I161V(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCGATTTCAATGCGGCGGCGC	0.607000													38	74					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29642629	29642629	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:29642629T>A	ENST00000318184.5	-	6	625	c.626A>T	c.(625-627)aAg>aTg	p.K209M		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	209	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.K209M(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTCATGCTCTTGAGCACAGT	0.483000													5	17					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16873346	16873346	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:16873346A>T	ENST00000377833.4	-	65	10498	c.10433T>A	c.(10432-10434)gTc>gAc	p.V3478D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3478	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.V3478D(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAGAGAAGACAGGGTTTGG	0.393000													17	66					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220699	1220699	+	Missense_Mutation	SNP	G	G	T	rs137853082		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:1220699G>T	ENST00000326873.7	+	5	1890	c.717G>T	c.(715-717)tgG>tgT	p.W239C		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	239	Protein kinase.		W -> C (in PJS; late onset suggests reduced penetrance).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.W239C(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACATCTGGTCGGCTGGGG	0.701000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	9					0.000673444	0.00071177	1	1	0
MYLK	4638	broad.mit.edu	37	3	123419547	123419547	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:123419547A>G	ENST00000360772.3	-	19	3146	c.2768T>C	c.(2767-2769)aTg>aCg	p.M923T	MYLK_ENST00000359169.1_Missense_Mutation_p.M923T|MYLK_ENST00000346322.5_Missense_Mutation_p.M854T|MYLK_ENST00000475616.1_Missense_Mutation_p.M923T|MYLK_ENST00000360304.3_Missense_Mutation_p.M923T			Q15746	MYLK_HUMAN	myosin light chain kinase	923	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.M923T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACGGAAATCCATCTGCTCGGC	0.572000													19	34					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793888	114793888	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:114793888G>A	ENST00000310346.4	-	9	1672	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	TBX5_ENST00000405440.2_Missense_Mutation_p.H336Y|TBX5_ENST00000349716.5_Missense_Mutation_p.H286Y	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	336					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.H336Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTATAGGGATGGTCTGTGGTG	0.532000													7	110					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30303750	30303750	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:30303750A>C	ENST00000376659.5	+	5	1376	c.778A>C	c.(778-780)Aag>Cag	p.K260Q	TRIM39_ENST00000396548.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.K260Q|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.K172Q|TRIM39_ENST00000396547.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000376656.4_Missense_Mutation_p.K260Q	NM_172016.2	NP_742013.1			tripartite motif containing 39									p.K260Q(1)		ovary(3)	3						CGAGATGCTTAAGGTTCGACC	0.582000													10	28					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44438272	44438272	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr21:44438272G>T	ENST00000291547.5	+	7	863	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F	PKNOX1_ENST00000432907.2_Missense_Mutation_p.V101F	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	218							sequence-specific DNA binding	p.V218F(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TGTCACGGTCGTCACTCCCCA	0.468000													13	30					2.98522e-18	5.27998e-18	1	1	0
PIGR	5284	broad.mit.edu	37	1	207105801	207105801	+	Splice_Site	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:207105801C>T	ENST00000356495.4	-	8	2191	c.2008_splice	c.e8+1	p.D670_splice		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	670						extracellular region|integral to plasma membrane	protein binding	p.D670N(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGGACTCACCGACGTTCTTC	0.632000													26	101					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48661577	48661577	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:48661577G>T	ENST00000334136.5	+	4	443	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.V103L|HDAC6_ENST00000413163.2_Missense_Mutation_p.V34L|HDAC6_ENST00000376619.2_Missense_Mutation_p.V89L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	89	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	p.V89L(1)		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)	CACTGGCTTGGTGTTGGATGA	0.488000													9	2					0.000673444	0.00071177	1	1	0
KRT6B	3854	broad.mit.edu	37	12	52841671	52841671	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:52841671G>T	ENST00000252252.3	-	7	1362	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	439	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.Q439K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCAGGTCCTGCTTGGCCTTC	0.617000													36	76					6.97489e-18	1.20097e-17	1	1	0
SH3BP2	6452	broad.mit.edu	37	4	2834061	2834061	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:2834061G>T	ENST00000442312.2	+	11	1673	c.1494G>T	c.(1492-1494)ttG>ttT	p.L498F	SH3BP2_ENST00000503393.2_Missense_Mutation_p.L527F|SH3BP2_ENST00000435136.2_Missense_Mutation_p.L470F|SH3BP2_ENST00000356331.5_Missense_Mutation_p.L470F|SH3BP2_ENST00000452765.2_Missense_Mutation_p.L470F|SH3BP2_ENST00000511747.1_Missense_Mutation_p.L470F	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	470	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	p.L470F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTTTAGGTTGTTCAAGGCTA	0.592000									Cherubism				62	93					1.55545e-33	2.99567e-33	1	1	0
STIM1	6786	broad.mit.edu	37	11	4104601	4104601	+	Silent	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:4104601A>T	ENST00000300737.4	+	10	1916	c.1347A>T	c.(1345-1347)tcA>tcT	p.S449S	STIM1_ENST00000527651.1_Silent_p.S449S|STIM1_ENST00000533977.1_Silent_p.S276S	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	449					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.S449S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCATCCACTCACTGGTGGCTG	0.582000													16	40					0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42914258	42914258	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:42914258T>C	ENST00000302279.3	+	2	418	c.224T>C	c.(223-225)aTa>aCa	p.I75T	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.I32T	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	75					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	p.I75T(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTGATATAGATCCGGTG	0.403000													11	19					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047872	46047872	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr21:46047872T>A	ENST00000397911.3	+	1	833	c.784T>A	c.(784-786)Tgc>Agc	p.C262S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	262						keratin filament		p.C262S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCCCAGCTATTGCCGCCAGGC	0.692000													28	79					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15733988	15733988	+	RNA	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:15733988C>A	ENST00000441682.2	+	0	782							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.R240R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCAGTTCTTCCGGTACAAGGA	0.552000													16	29					1.3612e-06	1.6538e-06	1	1	0
TAAR6	319100	broad.mit.edu	37	6	132892437	132892437	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:132892437T>C	ENST00000275198.1	+	1	977	c.977T>C	c.(976-978)gTa>gCa	p.V326A		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	326			V -> I (in dbSNP:rs17061419).			plasma membrane	G-protein coupled receptor activity	p.V326A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AAAGTTATTGTAACTGGTCAG	0.318000													38	70					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727575	20727575	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:20727575C>A	ENST00000427401.4	-	4	1528	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	478					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E477D(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTAGGGTTTCTCTCCAGTAT	0.413000													16	35					1.99824e-07	2.49779e-07	1	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100636656	100636656	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:100636656C>A	ENST00000268070.4	-	15	2147	c.2042G>T	c.(2041-2043)gGg>gTg	p.G681V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	681	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G681V(1)		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)		GGCTGCAGACCCGATGATGCC	0.572000													23	86					1.10513e-12	1.65135e-12	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162421230	162421230	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:162421230G>T	ENST00000306100.5	-	12	1832	c.1396C>A	c.(1396-1398)Caa>Aaa	p.Q466K	FSTL5_ENST00000536695.1_Missense_Mutation_p.Q465K|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q465K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q456K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	466						extracellular region	calcium ion binding	p.Q466K(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTATGGGTTGTATCACTTTG	0.328000													7	30					0.000157383	0.000170499	1	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98405277	98405277	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:98405277A>T	ENST00000339364.5	-	8	1447	c.1328T>A	c.(1327-1329)cTc>cAc	p.L443H	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L265H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	443						cytoplasm|plasma membrane		p.L443H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGACTCATAGAGATCCTCGTC	0.537000													10	33					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42147077	42147077	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:42147077C>A	ENST00000320955.6	-	56	9748	c.9521G>T	c.(9520-9522)cGg>cTg	p.R3174L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3174					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.R3174L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGTGCACCCCGCTCCAGGGT	0.587000													12	40					1.5842e-08	2.09082e-08	1	1	0
OR3A1	4994	broad.mit.edu	37	17	3195311	3195311	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:3195311T>C	ENST00000323404.1	-	1	565	c.566A>G	c.(565-567)cAg>cGg	p.Q189R	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q189R(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCAGGAGAGCTGGAAGAGCTG	0.517000													31	64					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028554	59028554	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:59028554C>A	ENST00000594051.1	-	2	967	c.487G>T	c.(487-489)Ggg>Tgg	p.G163W	ZBTB45_ENST00000600990.1_Missense_Mutation_p.G163W|ZBTB45_ENST00000354590.3_Missense_Mutation_p.G163W			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	163	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G163W(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGGGGTGCCCCGGGGGACGT	0.736000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	34					4.14922e-12	6.12953e-12	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204166	9204166	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:9204166G>T	ENST00000429566.3	+	1	312	c.246G>T	c.(244-246)ctG>ctT	p.L82L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTAAGATGCTGGTGAGCCTTC	0.527000													18	28					0.000958276	0.00100871	1	1	0
XIST	7503	broad.mit.edu	37	X	73063053	73063053	+	RNA	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:73063053G>T	ENST00000429829.1	-	0	9535					NR_001564.2																						GGATACTAGGGCATAATATCC	0.443000													8	12					1.12685e-05	1.27939e-05	1	1	0
MTNR1B	4544	broad.mit.edu	37	11	92714983	92714983	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:92714983C>A	ENST00000257068.2	+	2	600	c.594C>A	c.(592-594)acC>acA	p.T198T		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	198					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.T198T(1)		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)	CCGCCAGCACCCAGTACACGG	0.617000													8	29					9.31168e-06	1.06186e-05	1	1	0
LLGL1	3996	broad.mit.edu	37	17	18145251	18145251	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:18145251G>C	ENST00000316843.4	+	19	2916	c.2820G>C	c.(2818-2820)cgG>cgC	p.R940R		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	940					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	p.R940R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TAAGTGCCCGGAACATCACAG	0.572000													7	88					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101240	16101240	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:16101240G>T	ENST00000375766.3	+	7	1479	c.839G>T	c.(838-840)aGc>aTc	p.S280I	FBLIM1_ENST00000332305.5_Missense_Mutation_p.S183I|FBLIM1_ENST00000441801.2_Missense_Mutation_p.S280I|FBLIM1_ENST00000400773.1_Missense_Mutation_p.S183I|FBLIM1_ENST00000375771.1_Missense_Mutation_p.S280I	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	280	LIM zinc-binding 2.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.S280I(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGGGATGAGAGCTTTGCCCTG	0.642000													21	109					2.89027e-11	4.12895e-11	1	1	0
WBP1	23559	broad.mit.edu	37	2	74687010	74687010	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:74687010G>C	ENST00000393972.3	+	4	488	c.285G>C	c.(283-285)ctG>ctC	p.L95L	WBP1_ENST00000233615.2_Silent_p.L61L|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Silent_p.L58L			Q96G27	WBP1_HUMAN	WW domain binding protein 1	61							WW domain binding	p.L61L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GGTTCTGGCTGCTCTGGACTG	0.572000													20	36					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99856015	99856015	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:99856015T>C	ENST00000369239.5	-	7	1010	c.806A>G	c.(805-807)aAg>aGg	p.K269R	PNISR_ENST00000438806.1_Missense_Mutation_p.K269R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	269						nuclear speck		p.K269R(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTCTGTGGCCTTTTTTTCTTT	0.393000													38	75					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399302	10399302	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:10399302C>T	ENST00000226207.5	-	35	5228	c.5134G>A	c.(5134-5136)Gat>Aat	p.D1712N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1712						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D1712N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCACTGGCATCCAGGAGCTCC	0.517000													31	43					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793228	53793228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:53793228C>A	ENST00000426466.1	-	1	1647	c.400G>T	c.(400-402)Gaa>Taa	p.E134*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	134					apoptosis		zinc ion binding	p.E134*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGAATTCTTTCCTCCATTATT	0.368000													34	117					4.11147e-13	6.21502e-13	1	1	0
OR2T1	26696	broad.mit.edu	37	1	248569559	248569559	+	Silent	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:248569559A>G	ENST00000366474.1	+	1	264	c.264A>G	c.(262-264)gcA>gcG	p.A88A		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A88A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCACCGCACTGATGGCCA	0.443000													25	110					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186272671	186272671	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:186272671C>G	ENST00000504273.1	+	14	2176	c.1882C>G	c.(1882-1884)Ctc>Gtc	p.L628V	SNX25_ENST00000264694.8_Missense_Mutation_p.L628V|SNX25_ENST00000512853.1_Intron			Q9H3E2	SNX25_HUMAN	sorting nexin 25	628	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.L628V(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCCTGACTACCTCAAGGTTAT	0.448000													28	91					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100672123	100672123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:100672123G>A	ENST00000370132.3	-	9	1100	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	363					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.Q363*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GAGCAGATCTGAACATTTTTC	0.418000													77	192					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53883845	53883845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:53883845G>T	ENST00000514921.1	+	1	132	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	MLIP_ENST00000509997.1_Nonsense_Mutation_p.E7*|MLIP_ENST00000274897.5_Nonsense_Mutation_p.E7*|MLIP_ENST00000370877.2_Nonsense_Mutation_p.E7*			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	7	Interaction with LMNA.					nuclear envelope|PML body	protein binding	p.E7*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGAAAAGCGTGAAAAAAGAAG	0.358000													7	34					8.12818e-05	8.917e-05	1	1	0
FRMPD2	143162	broad.mit.edu	37	10	49430483	49430483	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:49430483G>T	ENST00000374201.3	-	12	1630	c.1328C>A	c.(1327-1329)aCa>aAa	p.T443K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.T412K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.T419K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	443	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.T443K(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGCCTTGTCAGGCTGTG	0.507000													22	39					1.50039e-11	2.17934e-11	1	1	0
ASPM	259266	broad.mit.edu	37	1	197070841	197070841	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:197070841A>T	ENST00000367409.4	-	18	7796	c.7540T>A	c.(7540-7542)Tat>Aat	p.Y2514N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2514					mitosis	cytoplasm|nucleus	calmodulin binding	p.Y2514N(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATGTTCGATAATGTTGCTGA	0.363000													30	81					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156649936	156649936	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:156649936C>A	ENST00000422843.3	+	6	711	c.559C>A	c.(559-561)Cct>Act	p.P187T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	187	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P187T(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACCAATGATCCTCAGGAACT	0.488000			T	SYK	peripheral T-cell lymphoma								24	32					9.57634e-11	1.32439e-10	1	1	0
CDC27	996	broad.mit.edu	37	17	45219678	45219678	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:45219678A>G	ENST00000066544.3	-	11	1388	c.1295T>C	c.(1294-1296)tTg>tCg	p.L432S	CDC27_ENST00000446365.2_Missense_Mutation_p.L371S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S|CDC27_ENST00000531206.1_Missense_Mutation_p.L438S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L438S(1)|p.L432S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGAAGAGTCCAATTTTGTAAT	0.343000													5	21					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46603320	46603320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr21:46603320C>T	ENST00000539173.1	+	7	1726	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*	ADARB1_ENST00000360697.3_Nonsense_Mutation_p.R431*|ADARB1_ENST00000389863.4_Nonsense_Mutation_p.R431*|ADARB1_ENST00000348831.4_Nonsense_Mutation_p.R431*|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	431	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.R431*(4)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GAAATCAGAGCGAGGGGGGTT	0.393000													4	30					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592825	101592825	+	Missense_Mutation	SNP	T	T	G	rs143134834		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:101592825T>G	ENST00000310954.6	-	8	1749	c.1463A>C	c.(1462-1464)tAt>tCt	p.Y488S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	488					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.Y488S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTACCCATTATATGATTCAGA	0.333000													13	25					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133824234	133824234	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:133824234C>T	ENST00000285928.2	+	3	520	c.451C>T	c.(451-453)Cta>Tta	p.L151L	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	151							ATP binding|kinase activity	p.L151L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATATGTTCATCTACAGAAGTT	0.318000													13	35					0	0	1	0	0
LINC01359	101927084	broad.mit.edu	37	1	65450126	65450126	+	RNA	DEL	T	T	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:65450126delT	ENST00000447748.1	-	0	1775																											AAATGAAATATTTTAAAAGCC	0.438													2	4	---	---	---	---					
CRB1	23418	broad.mit.edu	37	1	197390533	197390533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:197390533delC	ENST00000367400.3	+	6	1710	c.1575delC	c.(1573-1575)ttfs	p.F525fs	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Frame_Shift_Del_p.F413fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.F456fs|CRB1_ENST00000543483.1_Frame_Shift_Del_p.F224fs|CRB1_ENST00000544212.1_Frame_Shift_Del_p.F6fs|CRB1_ENST00000538660.1_Frame_Shift_Del_p.F525fs|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	525	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTACTTTTCCGAAGCAACA	0.453													40	86	---	---	---	---					
FAM177B	400823	broad.mit.edu	37	1	222923324	222923324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:222923324delA	ENST00000445590.2	+	6	667	c.401delA	c.(400-402)gafs	p.E134fs	FAM177B_ENST00000360827.2_Frame_Shift_Del_p.E134fs	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	134										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GTTCCTAATGAAAAGTGTCAC	0.463													24	37	---	---	---	---					
MYT1L	23040	broad.mit.edu	37	2	1842936	1842936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:1842936delA	ENST00000399161.2	-	21	3812	c.3065delT	c.(3064-3066)tcfs	p.F1022fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.F1020fs|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Frame_Shift_Del_p.F18fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1022					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGTGTGAGGAAGCTGCCGCT	0.662													22	16	---	---	---	---					
CAD	790	broad.mit.edu	37	2	27463992	27463993	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:27463992_27463993delAG	ENST00000264705.4	+	37	5867_5868	c.5705_5706delAG	c.(5704-5706)cfs	p.Q1902fs	CAD_ENST00000403525.1_Frame_Shift_Del_p.Q1839fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1902	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCATCTCCCCAGAACCTGGGGA	0.604													83	201	---	---	---	---					
CLASP1	23332	broad.mit.edu	37	2	122165204	122165204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:122165204delG	ENST00000263710.4	-	25	2901	c.2512delC	c.(2512-2514)gcfs	p.R838fs	CLASP1_ENST00000397587.3_Frame_Shift_Del_p.R818fs|CLASP1_ENST00000545861.1_Frame_Shift_Del_p.R585fs|CLASP1_ENST00000541377.1_Frame_Shift_Del_p.R816fs|CLASP1_ENST00000455322.2_Frame_Shift_Del_p.R810fs|CLASP1_ENST00000541859.1_Frame_Shift_Del_p.R571fs|CLASP1_ENST00000409078.3_Frame_Shift_Del_p.R810fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	838					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCATATGAGCGCTCAGAGCAA	0.498													21	83	---	---	---	---					
LRIG1	26018	broad.mit.edu	37	3	66465421	66465422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:66465421_66465422insA	ENST00000383703.3	-	5	1172_1173	c.569_570insT	c.(568-570)cctfs	p.P190fs	LRIG1_ENST00000273261.3_Frame_Shift_Ins_p.P190fs			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	190						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAAGAGTTAGCAGCGACCGTGA	0.495													38	49	---	---	---	---					
TBC1D1	23216	broad.mit.edu	37	4	38091623	38091623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:38091623delC	ENST00000261439.4	+	13	2476	c.2121delC	c.(2119-2121)ggfs	p.G707fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.G801fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	707						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGCCCTTTGGCCCCCCACCAG	0.493													66	119	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33235055	33235056	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:33235055_33235056insA	ENST00000445902.2	-	11	1252_1253	c.1034_1035insT	c.(1033-1035)tacfs	p.Y345fs	VPS52_ENST00000436044.2_Frame_Shift_Ins_p.Y220fs|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	345					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTAGGGTGAAAATGGTGTT	0.564													8	85	---	---	---	---					
DPH7	92715	broad.mit.edu	37	9	140459346	140459346	+	Splice_Site	DEL	T	T	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:140459346delT	ENST00000277540.2	-	7	932	c.776_splice	c.e7+1	p.S259_splice	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		GGGACTCACCTTCCCGTGGCC	0.642													2	4	---	---	---	---					
ZNF71	58491	broad.mit.edu	37	19	57132833	57132834	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:57132833_57132834insA	ENST00000328070.6	+	3	412_413	c.178_179insA	c.(178-180)aatfs	p.N60fs		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGAGCCATTGGGAATTCCCCAG	0.609													8	29	---	---	---	---					
