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
PITPNM2	57605	broad.mit.edu	37	12	123497231	123497231	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:123497231T>A	ENST00000280562.5	-	4	549	c.344A>T	c.(343-345)tAt>tTt	p.Y115F	PITPNM2_ENST00000320201.4_Missense_Mutation_p.Y115F|PITPNM2_ENST00000542749.1_Missense_Mutation_p.Y115F|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.Y115F|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	115					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.Y115F(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATCAGTTTTATAAAAGGTTTC	0.512000													42	211					0	0	0.002852	0	0
SASH1	23328	broad.mit.edu	37	6	148869469	148869469	+	Silent	SNP	C	C	T	rs111485793	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:148869469C>T	ENST00000367467.3	+	20	3994	c.3519C>T	c.(3517-3519)ccC>ccT	p.P1173P		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1173							protein binding	p.P1173P(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCGAAAGCCCGTCTCTCCTG	0.522000													8	99					0	0	0.008291	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817525	21817525	+	RNA	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:21817525C>T	ENST00000546471.1	-	0	1533																											TACACTAATCCTTAGTAAGTT	0.284000													3	18					0	0	0.000602	0	0
MTF1	4520	broad.mit.edu	37	1	38288038	38288038	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:38288038A>G	ENST00000373036.4	-	9	1662	c.1522T>C	c.(1522-1524)Tca>Cca	p.S508P		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	508						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.S508P(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCGCTGCTGATGCAGAAGCC	0.587000													3	43					0	0	0.004672	0	0
MARK1	4139	broad.mit.edu	37	1	220808734	220808734	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:220808734C>G	ENST00000402574.1	+	12	1736	c.734C>G	c.(733-735)tCg>tGg	p.S245W	MARK1_ENST00000366918.4_Missense_Mutation_p.S358W|MARK1_ENST00000366917.4_Missense_Mutation_p.S380W	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	380	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S380W(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGTGGTGAATCGTTATCCAGT	0.403000													3	58					0	0	0.004672	0	0
HSPA12A	259217	broad.mit.edu	37	10	118460544	118460544	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:118460544G>A	ENST00000369209.3	-	4	455	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	117							ATP binding	p.A738A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGTCCCTGGCGGCATACCCGA	0.567000													9	82					0	0	0.004482	0	0
UBR4	23352	broad.mit.edu	37	1	19481946	19481946	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:19481946C>T	ENST00000375267.2	-	43	6292	c.6289G>A	c.(6289-6291)Gag>Aag	p.E2097K	UBR4_ENST00000375254.3_Missense_Mutation_p.E2097K|UBR4_ENST00000375217.2_Missense_Mutation_p.E2097K|UBR4_ENST00000375226.2_Missense_Mutation_p.E2097K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2097					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E2097K(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCAGGTCCTCATGATTGATT	0.398000													5	85					0	0	0.000602	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678500	48678500	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:48678500G>A	ENST00000352832.5	+	18	4183	c.3811G>A	c.(3811-3813)Gcc>Acc	p.A1271T	CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1271T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1294T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1271T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1271T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1271T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1294					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.A1294T(3)|p.A1271T(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCACCATCGCCATGGAGCG	0.592000													6	62					0	0	0.001168	0	0
CLINT1	9685	broad.mit.edu	37	5	157218721	157218721	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:157218721G>A	ENST00000523094.1	-	10	1521	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	CLINT1_ENST00000411809.2_Missense_Mutation_p.S457L|CLINT1_ENST00000296951.5_Missense_Mutation_p.S439L|CLINT1_ENST00000523908.1_Missense_Mutation_p.S457L|CLINT1_ENST00000530742.1_Missense_Mutation_p.S439L	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	457					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.S439L(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTGATCTTGACATAGGCAA	0.378000													7	291					0	0	0.003080	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443439	5443439	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:5443439G>C	ENST00000300778.4	+	1	99	c.9G>C	c.(7-9)caG>caC	p.Q3H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q3H(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGTCCCAGGTGACTAACA	0.448000													16	115					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			18	16					0	0	0.008871	0	0
DNAH2	146754	broad.mit.edu	37	17	7643738	7643738	+	Splice_Site	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:7643738G>T	ENST00000572933.1	+	10	2837	c.1376_splice	c.e10-1	p.K459_splice	DNAH2_ENST00000389173.2_Splice_Site_p.K459_splice|DNAH2_ENST00000082259.3_Splice_Site_p.K541_splice|DNAH2_ENST00000570791.1_Splice_Site_p.K541_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	459	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K459N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGGTGCAGGTTCCGTGCCG	0.622000													25	123					1.96895e-08	2.59901e-08	0.002780	1	0
ZFHX3	463	broad.mit.edu	37	16	72991714	72991714	+	Silent	SNP	C	C	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:72991714C>A	ENST00000268489.5	-	2	3003	c.2331G>T	c.(2329-2331)gtG>gtT	p.V777V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ccgccgcagccaccgccgccg	0.637000													5	51					3.59834e-05	4.70278e-05	0.001168	1	0
SYP	6855	broad.mit.edu	37	X	49048091	49048091	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:49048091C>T	ENST00000263233.4	-	6	817	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYP_ENST00000538567.1_Missense_Mutation_p.A131T|SYP_ENST00000479808.1_Missense_Mutation_p.A249T	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	249					regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	p.A249T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TCGCCGTAGGCGTCCCCGGGT	0.706000													19	18					0	0	0.008871	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881884	228881884	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:228881884C>T	ENST00000392056.3	-	7	3732	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1229Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1229						cytoplasm	protein binding	p.R1229Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGGGGATCGCAGAGAAGG	0.567000													6	111					0	0	0.001168	0	0
STIP1	10963	broad.mit.edu	37	11	63965325	63965325	+	Splice_Site	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:63965325G>C	ENST00000358794.5	+	8	1596		c.e8-1		STIP1_ENST00000305218.4_Splice_Site|STIP1_ENST00000538945.1_Splice_Site			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1						axon guidance|response to stress	Golgi apparatus|nucleus		p.?(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTCTTTATCAGAGCATATGCT	0.463000													5	352					0	0	0.001168	0	0
PRDM2	7799	broad.mit.edu	37	1	14107311	14107311	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:14107311C>T	ENST00000235372.7	+	8	3877	c.3021C>T	c.(3019-3021)tgC>tgT	p.C1007C	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.C806C|PRDM2_ENST00000343137.4_Silent_p.C806C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.C1007C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1007	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1007C(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACACCCATGCCCCTCTCCAC	0.617000													5	120					0	0	0.000602	0	0
SEC14L5	9717	broad.mit.edu	37	16	5064922	5064922	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:5064922C>T	ENST00000251170.7	+	16	2222	c.2042C>T	c.(2041-2043)tCg>tTg	p.S681L	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	681	Ser-rich.					integral to membrane|intracellular	transporter activity	p.S681L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCGCCACCTCGTCCTCCTCC	0.652000													7	81					0	0	0.004482	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486774	117486774	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:117486774G>T	ENST00000355044.3	+	27	3938	c.3812G>T	c.(3811-3813)cGa>cTa	p.R1271L	ATRNL1_ENST00000303745.7_Missense_Mutation_p.R64L|ATRNL1_ENST00000423111.2_Missense_Mutation_p.R322L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1271						integral to membrane	sugar binding	p.R1271L(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)		CTTCGAGAACGACAGCAGATG	0.433000													7	48					0.000157383	0.000201695	0.003080	1	0
PARP3	10039	broad.mit.edu	37	3	51978890	51978890	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:51978890G>C	ENST00000417220.2	+	6	1086	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	PARP3_ENST00000398755.3_Missense_Mutation_p.E207Q|PARP3_ENST00000431474.1_Missense_Mutation_p.E200Q			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	200	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.E207Q(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTCAGCAAGGAGATGTTCAA	0.622000													5	45					0	0	0.001984	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411157	32411157	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:32411157A>G	ENST00000395388.2	+	3	633	c.524A>G	c.(523-525)tAt>tGt	p.Y175C	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.Y150C	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	175	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.Y175C(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGTTCCACTATCTCCCCTTC	0.547000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				13	131					0	0	0.002450	0	0
RDH8	50700	broad.mit.edu	37	19	10127840	10127840	+	Missense_Mutation	SNP	G	G	C	rs144177019		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:10127840G>C	ENST00000591589.1	+	2	460	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	RDH8_ENST00000171214.1_Missense_Mutation_p.E71Q			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	71					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.E71Q(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGCAGTGATGAGTCGGTGGC	0.612000													3	16					0	0	0.004672	0	0
ARPC2	10109	broad.mit.edu	37	2	219103426	219103426	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:219103426C>T	ENST00000295685.10	+	5	569	c.308C>T	c.(307-309)cCg>cTg	p.P103L	ARPC2_ENST00000315717.5_Missense_Mutation_p.P103L|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	103					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	p.P103L(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAAAATCTTCCGGCATCCAAG	0.373000													5	224					0	0	0.000602	0	0
SLC7A2	6542	broad.mit.edu	37	8	17412165	17412165	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:17412165G>A	ENST00000494857.1	+	8	1370	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000004531.10_Silent_p.T424T|SLC7A2_ENST00000522656.1_Silent_p.T384T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	384					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.T384T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTCCAAAACGAAGACACCAA	0.433000													5	118					0	0	0.000602	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367060	12367060	+	Silent	SNP	C	C	T	rs146182382		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:12367060C>T	ENST00000269143.3	-	5	687	c.456G>A	c.(454-456)ctG>ctA	p.L152L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	152					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.L152L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CACCCCAGAACAGAGCAGTCC	0.458000													16	48					0	0	0.003163	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532838	82532838	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:82532838T>C	ENST00000268206.7	-	6	605	c.437A>G	c.(436-438)aAt>aGt	p.N146S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N95S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	146					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.N146S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCAATCTTATTAATCACTAA	0.348000													14	26					0	0	0.002450	0	0
GABRA6	2559	broad.mit.edu	37	5	161117220	161117220	+	Silent	SNP	A	A	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:161117220A>T	ENST00000523217.1	+	7	899	c.657A>T	c.(655-657)atA>atT	p.I219I	GABRA6_ENST00000274545.5_Silent_p.I229I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	229					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.I229I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATACGTTATAATGACAGTTT	0.358000										TCGA Ovarian(5;0.080)			7	106					0	0	0.003080	0	0
ZFP91	80829	broad.mit.edu	37	11	58381734	58381734	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:58381734G>C	ENST00000316059.6	+	9	1191	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.K340N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	340	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.K340N(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGAAGAAGAAATATGTAT	0.398000													14	73					0	0	0.002450	0	0
TRIM39	56658	broad.mit.edu	37	6	30309601	30309601	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:30309601G>A	ENST00000376659.5	+	8	1630	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	TRIM39_ENST00000376656.4_Silent_p.R374R|TRIM39_ENST00000396548.1_Silent_p.R344R|TRIM39_ENST00000396547.1_Silent_p.R374R|TRIM39_ENST00000540416.1_Silent_p.R344R|TRIM39-RPP21_ENST00000513556.1_Silent_p.R256R|TRIM39_ENST00000396551.3_Silent_p.R344R	NM_172016.2	NP_742013.1			tripartite motif containing 39									p.R374R(1)		ovary(3)	3						ACACACCAAGGCGTTTCACCT	0.572000													6	55					0	0	0.001984	0	0
NDUFB11	54539	broad.mit.edu	37	X	47001817	47001817	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:47001817C>T	ENST00000377811.3	-	3	1185	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	NDUFB11_ENST00000276062.8_Missense_Mutation_p.E131K	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	121					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		p.E131K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CTCTCAGCTTCGCGGCGGGAC	0.552000													3	55					0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10352023	10352023	+	Silent	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:10352023G>C	ENST00000255381.2	-	32	4553	c.4443C>G	c.(4441-4443)ctC>ctG	p.L1481L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1481					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1481L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCAGTGCTGAGAGAACGCG	0.453000													7	112					0	0	0.003080	0	0
OR5D13	390142	broad.mit.edu	37	11	55541387	55541387	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:55541387C>T	ENST00000361760.1	+	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S158S(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAGTGTGCTCCCTGATACTCA	0.408000													20	229					0	0	0.007413	0	0
SETD6	79918	broad.mit.edu	37	16	58550737	58550737	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:58550737G>C	ENST00000394266.4	+	6	546	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	SETD6_ENST00000219315.4_Missense_Mutation_p.E233Q|SETD6_ENST00000310682.2_Missense_Mutation_p.E209Q|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	233	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	p.E209Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GGAGGAAGAAGAGGATGAAAA	0.517000													9	210					0	0	0.006214	0	0
RPS26	6231	broad.mit.edu	37	12	56436228	56436228	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:56436228A>G	ENST00000356464.5	+	2	337	c.23A>G	c.(22-24)aAt>aGt	p.N8S	RPS26_ENST00000552361.1_Missense_Mutation_p.N8S			P62854	RS26_HUMAN	ribosomal protein S26	8					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	p.N8S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGAAGGAACAATGGTCGTGCC	0.552000													11	53					0	0	0.001368	0	0
DCX	1641	broad.mit.edu	37	X	110654183	110654183	+	Missense_Mutation	SNP	T	T	C	rs150627878		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:110654183T>C	ENST00000338081.3	-	1	191	c.20A>G	c.(19-21)cAt>cGt	p.H7R	DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	7					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.H7R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACAATGACTATGAAGGGGGAG	0.438000													70	102					0	0	0.003610	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224321	172224321	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:172224321G>A	ENST00000241261.2	-	5	929	c.807C>T	c.(805-807)gaC>gaT	p.D269D	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	269					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.D269D(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGCTTCATGGTCCATGTCTA	0.368000													4	64					0	0	0.000248	0	0
ARL16	339231	broad.mit.edu	37	17	79650121	79650121	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:79650121T>C	ENST00000397498.4	-	3	326	c.228A>G	c.(226-228)agA>agG	p.R76R	ARL16_ENST00000573392.1_Intron|ARL16_ENST00000570561.1_5'UTR|ARL16_ENST00000576135.1_5'UTR|ARL16_ENST00000574938.1_Intron	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	76							GTP binding	p.R76R(1)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGTGATCTTTCTCTGTGCCA	0.507000													5	213					0	0	0.000602	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591554	56591554	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:56591554T>C	ENST00000338222.5	+	1	1529	c.1248T>C	c.(1246-1248)ttT>ttC	p.F416F		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	416						cytoplasm|nucleus|plasma membrane	binding	p.F416F(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCCCGCTGTTTACTGCAAATC	0.527000													9	22					0	0	0.004482	0	0
LINGO4	339398	broad.mit.edu	37	1	151773644	151773644	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:151773644C>T	ENST00000368820.3	-	2	2474	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	513						integral to membrane		p.D513N(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGTTGGGGTCAGAAAGTGTG	0.577000													18	218					0	0	0.004990	0	0
SGK3	23678	broad.mit.edu	37	8	67734616	67734616	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:67734616C>T	ENST00000396596.1	+	6	553	c.339C>T	c.(337-339)gtC>gtT	p.V113V	SGK3_ENST00000345714.4_Silent_p.V113V|SGK3_ENST00000521198.2_Silent_p.V113V|C8orf44-SGK3_ENST00000519289.1_Silent_p.V113V|SGK3_ENST00000522398.1_Silent_p.V113V|SGK3_ENST00000520976.1_Silent_p.V113V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	113	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	p.V46V(1)|p.V113V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCCAGATGTCAGAGCATTCC	0.333000													12	166					0	0	0.000978	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406039	33406039	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:33406039C>T	ENST00000418600.2	+	8	1458	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H394Y|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H453Y|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	453	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.H453Y(1)|p.H438Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCACTAGTTCACATCCTGCA	0.547000													21	214					0	0	0.001882	0	0
SCIN	85477	broad.mit.edu	37	7	12692224	12692224	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:12692224C>T	ENST00000297029.5	+	16	2133	c.2032C>T	c.(2032-2034)Ctt>Ttt	p.L678F	SCIN_ENST00000519209.1_Missense_Mutation_p.L431F|SCIN_ENST00000445618.2_Missense_Mutation_p.L431F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	678	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.L678F(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAAAATGTACCTTGAGACAGA	0.393000													3	80					0	0	0.004672	0	0
ACO2	50	broad.mit.edu	37	22	41919908	41919908	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr22:41919908C>T	ENST00000396512.3	+	12	1537	c.1520C>T	c.(1519-1521)gCa>gTa	p.A507V	ACO2_ENST00000216254.4_Missense_Mutation_p.A482V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	482					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.A482V(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CGCAACGACGCAAACCCCGAG	0.607000													15	28					0	0	0.004007	0	0
IRF9	10379	broad.mit.edu	37	14	24621036	24621036	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:24621036C>T	ENST00000558468.1	+	3	390	c.390C>T	c.(388-390)agC>agT	p.S130S	RNF31_ENST00000559275.1_Silent_p.S504S|RNF31_ENST00000324103.6_Silent_p.S655S|RNF31_ENST00000382687.3_Silent_p.S504S														p.S655S(1)									CACTCCCCAGCTGGGGCCGGG	0.617000													17	112					0	0	0.007413	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	67					0	0	0.002522	0	0
NDUFB2	4708	broad.mit.edu	37	7	140402790	140402790	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:140402790C>T	ENST00000476279.1	+	2	297	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	NDUFB2_ENST00000204307.5_Missense_Mutation_p.H65Y|NDUFB2_ENST00000247866.4_Missense_Mutation_p.H75Y|NDUFB2_ENST00000460088.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.H63Y|NDUFB2_ENST00000482954.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000465506.1_Missense_Mutation_p.H75Y|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000472695.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000476470.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000475276.1_Missense_Mutation_p.H48Y			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	75					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.H75Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	GCGCTTTTGGCATGACTCAGA	0.507000													5	319					0	0	0.001984	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835714	47835714	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:47835714C>G	ENST00000289672.2	-	55	8278	c.8228G>C	c.(8227-8229)aGa>aCa	p.R2743T	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2743					cell-cell adhesion	integral to membrane		p.R2743T(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAAAGATTTTCTTTTTTGGGG	0.343000													12	102					0	0	0.001368	0	0
F2RL3	9002	broad.mit.edu	37	19	17000388	17000388	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:17000388C>G	ENST00000248076.3	+	2	444	c.114C>G	c.(112-114)agC>agG	p.S38R	F2RL3_ENST00000599210.1_Splice_Site_p.A37_splice	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	38					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	p.S38R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCCAGACAGCACGCCCTCAA	0.667000													7	80					0	0	0.004482	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													5	59					0	0	0.001168	0	0
ACAA2	10449	broad.mit.edu	37	18	47322175	47322175	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:47322175C>G	ENST00000285093.10	-	4	864	c.389G>C	c.(388-390)aGa>aCa	p.R130T	ACAA2_ENST00000589432.1_Missense_Mutation_p.R75T|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.R127T	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	130					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	p.R130T(1)		large_intestine(2)|lung(7)|ovary(1)	10						ACGCACATTTCTGACACAGTA	0.323000													7	86					0	0	0.004482	0	0
BCL2L12	83596	broad.mit.edu	37	19	50170394	50170394	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:50170394C>T	ENST00000246785.3	+	3	736	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	BCL2L12_ENST00000246784.3_Intron|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R159C	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	160					apoptosis			p.R160C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TCTGCCCATCCGCCCCTGCTA	0.567000													11	212					0	0	0.008291	0	0
SAMD12	401474	broad.mit.edu	37	8	119391896	119391896	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:119391896C>T	ENST00000409003.4	-	4	494	c.366G>A	c.(364-366)atG>atA	p.M122I	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000314727.4_Missense_Mutation_p.M122I	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	122	SAM.							p.M122I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGGCAATCCCCATTCGCTCGA	0.468000													23	132					0	0	0.003330	0	0
HEY2	23493	broad.mit.edu	37	6	126080673	126080673	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:126080673G>A	ENST00000368364.3	+	5	936	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	HEY2_ENST00000368365.1_Missense_Mutation_p.A201T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	247					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.A247T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGCAGCGTCGCCCCCTGCGT	0.662000													28	281					0	0	0.007291	0	0
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413000													4	68					0	0	0.000248	0	0
ABCC1	4363	broad.mit.edu	37	16	16215937	16215937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:16215937C>T	ENST00000399408.2	+	25	3701	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	ABCC1_ENST00000349029.5_Nonsense_Mutation_p.R1051*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.R1166*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.R1166*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.R1107*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.R1110*			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1166	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1166*(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAGCGTCATTCGAGCCTTCGA	0.612000													4	81					0	0	0.000248	0	0
MED11	400569	broad.mit.edu	37	17	4636427	4636427	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:4636427C>T	ENST00000293777.5	+	3	355	c.299C>T	c.(298-300)gCc>gTc	p.A100V	MED11_ENST00000575284.1_3'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	100					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	p.A100V(1)		lung(2)|ovary(2)	4						GTGGACTATGCCCGCCTCAAG	0.577000													3	53					0	0	0.004672	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	23					0	0	0.000248	0	0
COL12A1	1303	broad.mit.edu	37	6	75801215	75801215	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:75801215T>C	ENST00000322507.8	-	61	8985	c.8676A>G	c.(8674-8676)aaA>aaG	p.K2892K	COL12A1_ENST00000483888.2_Silent_p.K2888K|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000416123.2_Silent_p.K2816K|COL12A1_ENST00000345356.6_Silent_p.K1728K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2892	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.K2892K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCTATCACCTTTTTCTCCTT	0.284000													3	88					0	0	0.000248	0	0
LPA	4018	broad.mit.edu	37	6	160978538	160978538	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:160978538T>G	ENST00000447678.1	-	30	4817	c.4697A>C	c.(4696-4698)gAt>gCt	p.D1566A	LPA_ENST00000316300.5_Missense_Mutation_p.D1566A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4074	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.D1566A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACACACGGATCGGTTGTGTA	0.498000													3	134					0	0	0.000248	0	0
CPS1	1373	broad.mit.edu	37	2	211444463	211444463	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:211444463C>T	ENST00000233072.5	+	5	693	c.497C>T	c.(496-498)aCa>aTa	p.T166I	CPS1_ENST00000430249.2_Missense_Mutation_p.T172I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	166	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.T172I(1)|p.T166I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAGTGGACACAAGAATGCTG	0.358000													7	105					0	0	0.004482	0	0
FAT4	79633	broad.mit.edu	37	4	126389827	126389827	+	Silent	SNP	C	C	T	rs144476127	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr4:126389827C>T	ENST00000394329.3	+	11	12073	c.12060C>T	c.(12058-12060)ggC>ggT	p.G4020G	FAT4_ENST00000335110.5_Silent_p.G2283G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4020	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4020G(2)|p.G3985G(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCAGACAGGCGACCGGGCTG	0.398000													11	69					0	0	0.001368	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866933	131866933	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:131866933C>T	ENST00000359827.3	-	17	4137	c.3175G>A	c.(3175-3177)Gcc>Acc	p.A1059T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T			Q9HCM2	PLXA4_HUMAN	plexin A4	1059	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.A1059T(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCATACGGCGATGGGTGTG	0.507000													13	63					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176758977	176758977	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:176758977G>T	ENST00000367662.3	+	18	5912	c.4748G>T	c.(4747-4749)gGa>gTa	p.G1583V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1583	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1583V(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						CTGGAAGGTGGAATCTGGGAG	0.463000													18	27					6.94344e-10	9.25792e-10	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179650412	179650412	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:179650412G>A	ENST00000589042.1	-	15	2652	c.2428C>T	c.(2428-2430)Cgc>Tgc	p.R810C	TTN_ENST00000591111.1_Missense_Mutation_p.R810C|TTN_ENST00000360870.5_Missense_Mutation_p.R810C|TTN_ENST00000460472.2_Missense_Mutation_p.R764C|TTN_ENST00000359218.5_Missense_Mutation_p.R764C|TTN_ENST00000342175.6_Missense_Mutation_p.R764C|TTN_ENST00000342992.6_Missense_Mutation_p.R810C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	810							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R764C(3)|p.R810C(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGCTGTGCGGGGGCGTTTA	0.388000													7	153					0	0	0.001984	0	0
CCDC93	54520	broad.mit.edu	37	2	118703137	118703137	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:118703137G>A	ENST00000376300.2	-	17	1455	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	CCDC93_ENST00000319432.5_Missense_Mutation_p.P439S	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	440								p.P440S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AAGGTACCAGGCGGCTCTCCA	0.512000													5	99					0	0	0.001984	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	237					0	0	0.001168	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215725	20215725	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:20215725G>T	ENST00000331723.1	+	1	139	c.139G>T	c.(139-141)Gta>Tta	p.V47L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V47L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGATAGTGGTAACAGTGCA	0.418000													24	501					6.32553e-13	8.5201e-13	0.004656	1	0
PLA2G2D	26279	broad.mit.edu	37	1	20442055	20442055	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:20442055G>A	ENST00000375105.3	-	3	295	c.237C>T	c.(235-237)tgC>tgT	p.C79C		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	79					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.C79C(1)		endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAGATGCTGCACCCCTGGG	0.582000										Multiple Myeloma(11;0.12)			9	116					0	0	0.000978	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	144					0	0	0.001168	0	0
CLCA2	9635	broad.mit.edu	37	1	86909605	86909605	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:86909605G>A	ENST00000370565.4	+	10	1786	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	542					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.D542N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TATATTATTTGATCCTGATGG	0.398000													7	118					0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2985559	2985559	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:2985559C>T	ENST00000396946.4	-	4	655	c.252G>A	c.(250-252)ggG>ggA	p.G84G	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.G77G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCCCCTTTGCCCCTTGGTAT	0.493000			Mis		DLBCL								5	334					0	0	0.000602	0	0
RP1	6101	broad.mit.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2.				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.T166M(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)			GACCCGAAGACGAGGCGTGCG	0.642000													15	96					0	0	0.004007	0	0
PYROXD1	79912	broad.mit.edu	37	12	21621467	21621467	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:21621467C>G	ENST00000538582.1	+	12	1822	c.1069C>G	c.(1069-1071)Cag>Gag	p.Q357E	PYROXD1_ENST00000240651.9_Missense_Mutation_p.Q428E			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	428							oxidoreductase activity	p.Q428E(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATACAATGCACAGGGCTTAGG	0.363000													9	59					0	0	0.008291	0	0
ENG	2022	broad.mit.edu	37	9	130581017	130581017	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr9:130581017G>A	ENST00000344849.3	-	11	1686	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Missense_Mutation_p.P469L|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA			P17813	EGLN_HUMAN	endoglin	469	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.P469L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CTGCTGCCCCGGCTCGATGGT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				6	124					0	0	0.001984	0	0
TFCP2	7024	broad.mit.edu	37	12	51497949	51497949	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:51497949G>C	ENST00000307660.4	-	8	1522	c.802C>G	c.(802-804)Cca>Gca	p.P268A	TFCP2_ENST00000548115.1_Missense_Mutation_p.P268A|TFCP2_ENST00000257915.5_Missense_Mutation_p.P319A|TFCP2_ENST00000549867.1_Intron	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	319	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P319A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TCTGTGACTGGAGGGGGTGGC	0.408000													6	59					0	0	0.003080	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	37					0	0	0.004672	0	0
ZNF525	170958	broad.mit.edu	37	19	53885195	53885195	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:53885195A>C	ENST00000467003.1	+	4	1456	c.1255A>C	c.(1255-1257)Acc>Ccc	p.T419P	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.T455P|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.T173P					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GTTATCCCTTACCTGCCATTG	0.373000													4	34					0	0	0.000602	0	0
GRM6	2916	broad.mit.edu	37	5	178408745	178408745	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:178408745C>T	ENST00000231188.5	-	10	2725	c.2547G>A	c.(2545-2547)caG>caA	p.Q849Q	GRM6_ENST00000517717.1_Silent_p.Q849Q|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	849					detection of visible light|visual perception	integral to plasma membrane		p.Q849Q(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTGCACATTCTGCTCTGGAT	0.607000													7	170					0	0	0.001984	0	0
PANX1	24145	broad.mit.edu	37	11	93911638	93911638	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:93911638T>C	ENST00000227638.3	+	3	810	c.425T>C	c.(424-426)aTc>aCc	p.I142T	PANX1_ENST00000436171.2_Missense_Mutation_p.I142T	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	142					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	p.I142T(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGAAGTTTATCATGGAAGAA	0.502000													3	92					0	0	0.004672	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						integral to membrane|plasma membrane	symporter activity	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652000													3	74					0	0	0.004672	0	0
NRDE2	55051	broad.mit.edu	37	14	90764706	90764706	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:90764706A>G	ENST00000354366.3	-	8	1796	c.1564T>C	c.(1564-1566)Ttt>Ctt	p.F522L	NRDE2_ENST00000357904.3_Missense_Mutation_p.F291L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing									p.F522L(1)									CTGTCCCAAAAGGGTTCAAAG	0.547000													4	90					0	0	0.000602	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337402	13337402	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:13337402C>G	ENST00000380622.2	-	1	1116	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	218					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.E218Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTCCAGACTCATCACTTTCT	0.378000													12	592					0	0	0.000978	0	0
C22orf29	79680	broad.mit.edu	37	22	19839740	19839740	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr22:19839740G>A	ENST00000405640.1	-	2	713	c.45C>T	c.(43-45)atC>atT	p.I15I	C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Silent_p.I15I|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Silent_p.I15I|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	15								p.I15I(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CGGCTGCCCAGATGGGAATGC	0.637000													27	75					0	0	0.006320	0	0
AKR1E2	83592	broad.mit.edu	37	10	4881968	4881968	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:4881968C>T	ENST00000298375.7	+	6	701	c.630C>T	c.(628-630)tgC>tgT	p.C210C	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	210						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C210C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCAGTTTTTGCCAATCCAGAG	0.433000													4	111					0	0	0.000602	0	0
PRDM9	56979	broad.mit.edu	37	5	23522507	23522507	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:23522507T>C	ENST00000296682.3	+	7	785	c.603T>C	c.(601-603)gaT>gaC	p.D201D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	201					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.D201D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGATGATGATTACCTCTGTA	0.443000										HNSCC(3;0.000094)			15	237					0	0	0.004007	0	0
CD207	50489	broad.mit.edu	37	2	71060878	71060878	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:71060878G>T	ENST00000410009.3	-	3	509	c.464C>A	c.(463-465)cCa>cAa	p.P155Q		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	155					defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.P155Q(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTTAACTCTGGGATTTGGGC	0.438000													7	90					0.000157383	0.000201695	0.003080	1	0
ZSCAN29	146050	broad.mit.edu	37	15	43658995	43658995	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:43658995G>A	ENST00000396976.2	-	3	669	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P178S|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P179S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCGGATTTAGGAAATGGCAAT	0.458000													17	58					0	0	0.004990	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917985	65917985	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:65917985G>A	ENST00000261892.6	+	2	1854	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	SLC24A1_ENST00000546330.1_Missense_Mutation_p.V523M|SLC24A1_ENST00000537259.1_Missense_Mutation_p.V523M|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V523M|SLC24A1_ENST00000339868.6_Missense_Mutation_p.V523M|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V523M	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	523					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.V523M(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCACAGCAACGTGGGCATTGG	0.547000													5	163					0	0	0.000602	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239586	135239586	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:135239586G>A	ENST00000265605.2	-	7	1499	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	ALDH8A1_ENST00000367847.2_Silent_p.F427F|ALDH8A1_ENST00000367845.2_Silent_p.F423F	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	477					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.F477F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGATCTCAGTGAAGAAGTCGT	0.502000													4	51					0	0	0.000248	0	0
CRNN	49860	broad.mit.edu	37	1	152382681	152382682	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:152382681_152382682delTC	ENST00000271835.3	-	3	938_939	c.876_877delGA	c.(874-879)ggcafs	p.GT292fs	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	292	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGTGTGTCCCTGCCTGTA	0.609													33	488	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	7	---	---	---	---					
LONP1	9361	broad.mit.edu	37	19	5699070	5699071	+	Frame_Shift_Ins	INS	-	-	C	rs147331639	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:5699070_5699071insC	ENST00000360614.3	-	10	1809_1810	c.1652_1653insG	c.(1651-1653)gatfs	p.D551fs	LONP1_ENST00000590729.1_Frame_Shift_Ins_p.D421fs|LONP1_ENST00000593119.1_Frame_Shift_Ins_p.D487fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.D437fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.D355fs	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	551					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTCAGTCATGCCCCCGACGCT	0.644													8	47	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													2	4	---	---	---	---					
