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
UNC79	57578	broad.mit.edu	37	14	94007150	94007150	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr14:94007150G>T	ENST00000553484.1	+	13	1651	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	UNC79_ENST00000555664.1_Silent_p.L499L|UNC79_ENST00000256339.4_Silent_p.L322L|UNC79_ENST00000393151.2_Silent_p.L499L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	499						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCAGAGGCTGCTCAGTCAAT	0.428000													4	105					0.014758	0.015971	1	1	0
TCF7L2	6934	broad.mit.edu	37	10	114905802	114905802	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr10:114905802G>C	ENST00000545257.1	+	8	1328	c.821G>C	c.(820-822)gGa>gCa	p.G274A	TCF7L2_ENST00000538897.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000349937.2_Missense_Mutation_p.G270A|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369395.1_Missense_Mutation_p.G299A|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000369397.4_Missense_Mutation_p.G251A|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G251A|TCF7L2_ENST00000355995.4_Missense_Mutation_p.G274A|TCF7L2_ENST00000536810.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G298A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	274	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATCACGACAGGAGGATTCAGA	0.512000			T	VTI1A	colorectal								13	180					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681014	234681014	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:234681014G>A	ENST00000305139.6	+	5	1547	c.1408G>A	c.(1408-1410)Gcg>Acg	p.A470T	UGT1A4_ENST00000373409.3_Missense_Mutation_p.A472T|UGT1A1_ENST00000305208.5_Missense_Mutation_p.A471T|UGT1A5_ENST00000373414.3_Missense_Mutation_p.A472T|UGT1A6_ENST00000373424.1_Missense_Mutation_p.A203T|UGT1A7_ENST00000373426.3_Missense_Mutation_p.A468T|UGT1A8_ENST00000373450.4_Missense_Mutation_p.A468T|UGT1A9_ENST00000354728.4_Missense_Mutation_p.A468T|UGT1A10_ENST00000344644.5_Missense_Mutation_p.A468T|UGT1A3_ENST00000482026.1_Missense_Mutation_p.A472T	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GCACAAGGGCGCGCCACACCT	0.627000													4	143					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32323665	32323665	+	Missense_Mutation	SNP	C	C	T	rs141896420		TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr10:32323665C>T	ENST00000302418.4	-	11	1521	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATAGTGTTCCGCAGGATCTT	0.338000			T	"""RET, ALK"""	NSCLC								3	37					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158585762	158585762	+	Silent	SNP	T	T	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:158585762T>A	ENST00000424310.2	-	11	2267	c.1908A>T	c.(1906-1908)cgA>cgT	p.R636R	RNF145_ENST00000519865.1_Silent_p.R636R|RNF145_ENST00000521606.2_Silent_p.R653R|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Silent_p.R650R|RNF145_ENST00000274542.2_Silent_p.R664R|RNF145_ENST00000518802.1_Silent_p.R666R	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	636						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTATCTGGTCGTCTGGCAA	0.502000													15	209					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058210	43058210	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr20:43058210G>A	ENST00000316099.3	+	10	1419	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	HNF4A_ENST00000457232.1_Missense_Mutation_p.E412K|HNF4A_ENST00000415691.1_Missense_Mutation_p.E434K	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	444					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCAGGGTCTGAGCCCTATAA	0.607000													9	234					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069173	6069173	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chrX:6069173T>G	ENST00000381095.3	-	2	962	c.335A>C	c.(334-336)cAg>cCg	p.Q112P	NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q112P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q112P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q112P|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q112P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	112					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCCAGGTGCTGGGGGCACAC	0.532000													6	163					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580280	161580280	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:161580280G>A	ENST00000356592.3	+	10	1794	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	GABRG2_ENST00000393933.4_Missense_Mutation_p.R342H|GABRG2_ENST00000414552.2_Missense_Mutation_p.R485H|GABRG2_ENST00000361925.4_Missense_Mutation_p.R437H	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	437					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATACATATCCGCATTGCCAAA	0.493000													16	195					0	0	1	0	0
LYRM2	57226	broad.mit.edu	37	6	90348409	90348409	+	Silent	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:90348409C>T	ENST00000523377.1	-	1	63	c.27G>A	c.(25-27)gcG>gcA	p.A9A	LYRM2_ENST00000520441.1_Silent_p.A9A|LYRM2_ENST00000520318.1_Silent_p.A9A	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	9										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		ACGTTAGCGTCGCTGGGGGTA	0.637000													8	174					0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152785166	152785166	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:152785166C>T	ENST00000360090.3	+	1	720	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	82	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCACAGGCGCCGTAGGTC	0.692000													8	130					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2223983	2223983	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr16:2223983G>T	ENST00000326181.6	+	13	1329	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	399					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGGGCCCTGTGTGGTGTCTCT	0.597000													6	160					1.26484e-09	1.81678e-09	1	1	0
CRAT	1384	broad.mit.edu	37	9	131860346	131860346	+	Silent	SNP	C	C	T	rs140100627		TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:131860346C>T	ENST00000318080.2	-	11	1704	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	470					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCATGGAAGCCGAGCGGATGG	0.617000													5	248					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129909579	129909579	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:129909579A>G	ENST00000222481.4	+	3	279	c.224A>G	c.(223-225)cAg>cGg	p.Q75R		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	75					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GTCAACGTCCAGGCAGTCAAA	0.512000													5	84					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221314	67221314	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr16:67221314A>G	ENST00000314586.6	-	5	1094	c.854T>C	c.(853-855)gTc>gCc	p.V285A	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	285	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGCCAACTCGACTGGCAGGGC	0.657000													4	31					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49073536	49073536	+	Silent	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr15:49073536T>C	ENST00000380950.2	-	12	1621	c.1434A>G	c.(1432-1434)aaA>aaG	p.K478K	CEP152_ENST00000325747.5_Silent_p.K385K|CEP152_ENST00000399334.3_Silent_p.K478K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	478					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATTTCATCTTTTAGTTCTG	0.284000													3	57					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129377557	129377557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chrX:129377557C>A	ENST00000370978.4	-	5	514	c.361G>T	c.(361-363)Gtt>Ttt	p.V121F		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	121	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCATTCTCAACAGTAACAGAG	0.393000													4	85					0.150653	0.154567	1	1	0
HPSE2	60495	broad.mit.edu	37	10	100904138	100904138	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr10:100904138A>G	ENST00000370552.3	-	3	526	c.467T>C	c.(466-468)gTt>gCt	p.V156A	HPSE2_ENST00000370549.1_Missense_Mutation_p.V156A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V156A|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	156					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTAAGGCAACATCACTTCG	0.408000													5	106					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46747043	46747043	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:46747043T>C	ENST00000343304.6	-	5	1795	c.1510A>G	c.(1510-1512)Atc>Gtc	p.I504V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	504										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGCGGAAGATGTTAGAGCCC	0.527000													6	63					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889738	24889738	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr10:24889738C>A	ENST00000396432.2	-	14	3455	c.2969G>T	c.(2968-2970)aGt>aTt	p.S990I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S777I|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	989	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGCATTAACACTGATGGGCTG	0.458000													6	118					8.12818e-05	9.87887e-05	1	1	0
SCIMP	388325	broad.mit.edu	37	17	5126671	5126671	+	Silent	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:5126671C>A	ENST00000574081.1	-	2	206	c.102G>T	c.(100-102)ctG>ctT	p.L34L	SCIMP_ENST00000399600.4_Silent_p.L34L|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Silent_p.L34L|SCIMP_ENST00000571800.1_Silent_p.L34L|RP11-333E1.1_ENST00000573772.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	34						integral to membrane											GGATGAGGCCCAGACCCACAG	0.512000													27	451					4.74835e-14	6.88294e-14	1	1	0
WTIP	126374	broad.mit.edu	37	19	34981339	34981339	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:34981339G>T	ENST00000590071.2	+	2	1063	c.726G>T	c.(724-726)atG>atT	p.M242I	WTIP_ENST00000270288.6_Missense_Mutation_p.M466I	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCAGGCAATGGGGAGTCTTT	0.587000													5	78					5.18039e-06	6.76448e-06	1	1	0
CPS1	1373	broad.mit.edu	37	2	211464240	211464240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:211464240G>C	ENST00000233072.5	+	14	1700	c.1504G>C	c.(1504-1506)Gat>Cat	p.D502H	CPS1_ENST00000451903.2_Missense_Mutation_p.D51H|CPS1_ENST00000430249.2_Missense_Mutation_p.D508H	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	502					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			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)		AGAACAGCCAGATGGGTTAAT	0.473000													5	117					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131235	17131235	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr3:17131235A>T	ENST00000418129.2	+	6	3302	c.2837A>T	c.(2836-2838)gAt>gTt	p.D946V	PLCL2_ENST00000432376.1_Missense_Mutation_p.D946V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1072					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGACAAGCAGATCTTTTGAAA	0.333000													5	103					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114515929	114515929	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:114515929C>T	ENST00000369558.1	+	16	3660	c.3428C>T	c.(3427-3429)gCa>gTa	p.A1143V	HIPK1_ENST00000369555.2_Missense_Mutation_p.A1098V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A1098V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A1143V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A1109V|HIPK1_ENST00000406344.1_Missense_Mutation_p.A749V|HIPK1_ENST00000340480.4_Missense_Mutation_p.A769V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A749V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCATGCTGCAGCCTATACC	0.577000													7	185					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746614	94746614	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr8:94746614C>G	ENST00000399300.2	-	3	2238	c.2025G>C	c.(2023-2025)tgG>tgC	p.W675C	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	675							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGGCCGTCTCCAGTCCTCCT	0.627000													6	213					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499832	27499832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr10:27499832C>T	ENST00000396271.3	-	9	1241	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.G263E|ACBD5_ENST00000375905.4_Missense_Mutation_p.G337E|ACBD5_ENST00000375888.1_Missense_Mutation_p.G381E|ACBD5_ENST00000375897.3_Missense_Mutation_p.G195E	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	381					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCCATCTTCTCCTCCATGCTT	0.473000													9	243					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802408	222802408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:222802408G>T	ENST00000344922.5	+	4	1871	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	MIA3_ENST00000344441.6_Nonsense_Mutation_p.E616*|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	616					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCATCAACGTGAGGAATTGAA	0.478000													9	169					0.000274275	0.000321003	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													6	50					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71060598	71060598	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr8:71060598T>C	ENST00000452400.2	-	12	2696	c.2515A>G	c.(2515-2517)Atc>Gtc	p.I839V	NCOA2_ENST00000267974.4_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	839					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCATTGATGATGGCTTGCTTG	0.493000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	274					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47364148	47364148	+	Silent	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr3:47364148C>T	ENST00000232766.5	+	3	371	c.351C>T	c.(349-351)ttC>ttT	p.F117F	KLHL18_ENST00000455924.2_Silent_p.F5F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	117										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGGCGAGCTTCCTGCAGCTGC	0.527000													4	50					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20258002	20258002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr20:20258002G>T	ENST00000245957.5	+	22	2772	c.2696G>T	c.(2695-2697)cGg>cTg	p.R899L	C20orf26_ENST00000377309.2_Missense_Mutation_p.R255L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	899										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTATGTACCGGGATGCGATC	0.642000													11	124					4.68919e-08	6.55657e-08	1	1	0
ACP6	51205	broad.mit.edu	37	1	147126372	147126372	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:147126372C>A	ENST00000369238.5	-	6	1164	c.717G>T	c.(715-717)atG>atT	p.M239I	ACP6_ENST00000392988.2_Missense_Mutation_p.M239I	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	239					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TGTCAATGCCCATCCTGTCCT	0.488000													6	162					2.0095e-06	2.69068e-06	1	1	0
ZNF257	113835	broad.mit.edu	37	19	22256355	22256355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:22256355C>A	ENST00000594947.1	+	3	359	c.215C>A	c.(214-216)gCc>gAc	p.A72D	ZNF257_ENST00000600162.1_Missense_Mutation_p.A72D	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGATGGTAGCCAAACCCCCA	0.438000													7	173					0.0381472	0.0399156	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845011	248845011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:248845011C>A	ENST00000342623.3	-	1	618	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GAGCTCAGGGCCAGGGTCAAA	0.483000													5	82					1	1	1	1	0
SPEG	10290	broad.mit.edu	37	2	220354242	220354242	+	Silent	SNP	G	G	A	rs148685205	by1000genomes	TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:220354242G>A	ENST00000312358.7	+	36	8634	c.8502G>A	c.(8500-8502)tcG>tcA	p.S2834S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2834	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTTGTCCTCGCTCAAGGCTG	0.682000													4	105					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750279	142750279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:142750279C>A	ENST00000418316.1	+	1	863	c.842C>A	c.(841-843)cCc>cAc	p.P281H		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P281H(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GTTCTCACCCCCTTTCTCAAT	0.493000													6	65					0.0215528	0.0227022	1	1	0
TRBV19	28568	broad.mit.edu	37	7	142327012	142327012	+	RNA	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:142327012C>A	ENST00000390393.3	+	0	518																											CCAAAAGAACCCGACAGCTTT	0.498000													11	175					2.27111e-07	3.12031e-07	1	1	0
COL6A1	1291	broad.mit.edu	37	21	47417345	47417345	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr21:47417345G>C	ENST00000361866.3	+	21	1523	c.1409G>C	c.(1408-1410)gGc>gCc	p.G470A		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	470	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGCGAGGCTGGCCCTATCGGA	0.657000													5	95					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832365	72832365	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:72832365C>T	ENST00000335464.5	+	10	1192	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	344						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CAACTTCGCGCGCTGTGACGT	0.617000													40	261					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15719605	15719605	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr16:15719605T>C	ENST00000396368.3	-	8	1783	c.1577A>G	c.(1576-1578)aAg>aGg	p.K526R	KIAA0430_ENST00000548025.1_Missense_Mutation_p.K523R|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K525R|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K523R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K348R	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	525						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCTGACGCTCTTGCCATCCTT	0.468000													5	107					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814488	137814488	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:137814488G>T	ENST00000409968.1	+	3	816	c.638G>T	c.(637-639)gGt>gTt	p.G213V	THSD7B_ENST00000272643.3_Missense_Mutation_p.G213V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G182V|THSD7B_ENST00000543459.1_Missense_Mutation_p.G72V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCTCTTTGGTGGTTTGCAA	0.473000													11	289					7.03913e-09	1.00197e-08	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82447497	82447497	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:82447497G>T	ENST00000370728.1	+	21	3752	c.3107G>T	c.(3106-3108)tGg>tTg	p.W1036L	LPHN2_ENST00000370727.1_Missense_Mutation_p.W1051L|LPHN2_ENST00000370721.1_Missense_Mutation_p.W961L|LPHN2_ENST00000394879.1_Missense_Mutation_p.W1038L|LPHN2_ENST00000370723.1_Missense_Mutation_p.W1038L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.W1023L|LPHN2_ENST00000370717.2_Missense_Mutation_p.W1051L|LPHN2_ENST00000271029.4_Missense_Mutation_p.W1051L|LPHN2_ENST00000370725.1_Missense_Mutation_p.W1051L|LPHN2_ENST00000335786.5_Missense_Mutation_p.W1036L|LPHN2_ENST00000370713.1_Missense_Mutation_p.W1023L|LPHN2_ENST00000370730.1_Missense_Mutation_p.W1036L|LPHN2_ENST00000359929.3_Missense_Mutation_p.W1023L|LPHN2_ENST00000370715.1_Missense_Mutation_p.W1023L			O95490	LPHN2_HUMAN	latrophilin 2	1036					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCAGGTCTTGGGTGCTTGGC	0.398000													13	333					0.000151284	0.000182465	1	1	0
NFIL3	4783	broad.mit.edu	37	9	94171765	94171765	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:94171765T>G	ENST00000297689.3	-	2	1646	c.1252A>C	c.(1252-1254)Atg>Ctg	p.M418L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	418					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGTCTTTCATTTCAACAACT	0.403000													7	139					0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885821	23885821	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:23885821C>A	ENST00000374561.5	-	1	464	c.97G>T	c.(97-99)Gca>Tca	p.A33S	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	33					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCTCAGCTGCCGGGCCCTTC	0.682000													7	73					5.18039e-06	6.76448e-06	1	1	0
NUP214	8021	broad.mit.edu	37	9	134073760	134073760	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:134073760G>A	ENST00000359428.5	+	29	5023	c.4879G>A	c.(4879-4881)Ggc>Agc	p.G1627S	NUP214_ENST00000483497.2_Missense_Mutation_p.G453S|NUP214_ENST00000411637.2_Missense_Mutation_p.G1617S|NUP214_ENST00000451030.1_Missense_Mutation_p.G1628S			P35658	NU214_HUMAN	nucleoporin 214kDa	1627	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTTGCTCCCGGCCCATCTGC	0.572000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								4	172					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486311	125486311	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:125486311C>T	ENST00000259466.1	+	1	43	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGGCTTCATCCTCCTGGGCCT	0.493000													14	224					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588645	204588645	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:204588645C>G	ENST00000367175.1	-	1	2688	c.476G>C	c.(475-477)aGg>aCg	p.R159T	LRRN2_ENST00000367177.3_Missense_Mutation_p.R159T|LRRN2_ENST00000367176.3_Missense_Mutation_p.R159T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	159					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGAAAAGGCCCTGGGGGCGAT	0.597000													6	182					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056500	26056500	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:26056500C>G	ENST00000343677.2	-	1	199	c.157G>C	c.(157-159)Gag>Cag	p.E53Q		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	53	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCGCTACGCTCTTTAGAGGCG	0.552000													4	146					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053848	238053848	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:238053848T>A	ENST00000366570.4	-	1	246	c.88A>T	c.(88-90)Agt>Tgt	p.S30C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	30					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGAGCACACTGGAATAATCT	0.507000													5	47					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120740107	120740107	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:120740107A>T	ENST00000310396.5	+	7	1344	c.877A>T	c.(877-879)Aca>Tca	p.T293S	CPED1_ENST00000450913.2_Missense_Mutation_p.T293S|CPED1_ENST00000423795.1_Missense_Mutation_p.T73S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTCGACGGGCACAGTTTGGAA	0.418000													7	65					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013024	75013024	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr15:75013024T>A	ENST00000379727.3	-	7	1543	c.1345A>T	c.(1345-1347)Atc>Ttc	p.I449F	CYP1A1_ENST00000567032.1_Missense_Mutation_p.I449F|CYP1A1_ENST00000395048.2_Missense_Mutation_p.I449F|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I420F			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	449					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATGCCAAAGATAATCACCTTC	0.517000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				7	159					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324438	128324438	+	Silent	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:128324438A>G	ENST00000262462.4	+	3	1841	c.831A>G	c.(829-831)ggA>ggG	p.G277G	SLC27A6_ENST00000395266.1_Silent_p.G277G|SLC27A6_ENST00000506176.1_Silent_p.G277G			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	277					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATTTCTGGATGTGTTGAGT	0.358000													6	175					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69721517	69721517	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr15:69721517G>A	ENST00000260363.4	+	10	1154	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	KIF23_ENST00000395392.2_Missense_Mutation_p.R346Q|KIF23_ENST00000558585.1_Missense_Mutation_p.R163Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R163Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R346Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R346Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	346	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGAACTAACCGGACCAGAGCA	0.363000													3	36					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232347	21232347	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:21232347C>A	ENST00000233242.1	-	26	7520	c.7393G>T	c.(7393-7395)Gca>Tca	p.A2465S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2465					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTTTAATGCTTCAGCTTTT	0.408000													6	130					0.0215528	0.0227022	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27781322	27781322	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr16:27781322G>T	ENST00000261588.4	+	21	4135	c.4116G>T	c.(4114-4116)ctG>ctT	p.L1372L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1372										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTCAGCTGCTGCCCCAGCCGG	0.617000													12	149					7.93312e-07	1.08055e-06	1	1	0
KIF20A	10112	broad.mit.edu	37	5	137521655	137521655	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:137521655C>A	ENST00000394894.3	+	17	2357	c.2131C>A	c.(2131-2133)Cat>Aat	p.H711N	KIF20A_ENST00000508792.1_Missense_Mutation_p.H693N	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	711					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCAGAGTTGCATAAGTATCA	0.418000													3	38					0.115264	0.119814	1	1	0
NF1	4763	broad.mit.edu	37	17	29652837	29652837	+	Splice_Site	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:29652837G>T	ENST00000358273.4	+	37	5218		c.e37-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTTCCTTAGGTTCAAAACT	0.299000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	68					1	1	1	1	0
TRGV3	6976	broad.mit.edu	37	7	38398165	38398165	+	RNA	SNP	T	T	C	rs2392554		TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:38398165T>C	ENST00000390346.2	-	0	484																											AATTAGATTTTGCAGTCTCAA	0.468000													6	134					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755405	141755405	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:141755405G>A	ENST00000475668.2	+	28	3416	c.3362G>A	c.(3361-3363)cGc>cAc	p.R1121H	MGAM_ENST00000549489.2_Missense_Mutation_p.R1121H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1121	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGTTTATCCGCATCTCCACC	0.473000													10	142					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553782	19553782	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr14:19553782C>A	ENST00000409832.3	+	1	418	c.366C>A	c.(364-366)gaC>gaA	p.D122E		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	122										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTGGGGAGACTACGACGACA	0.597000													7	1085					0.014758	0.015971	1	1	0
DLAT	1737	broad.mit.edu	37	11	111910004	111910004	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:111910004C>G	ENST00000280346.6	+	7	1671	c.1012C>G	c.(1012-1014)Cct>Gct	p.P338A	DLAT_ENST00000537636.1_Missense_Mutation_p.P109A|DLAT_ENST00000393051.1_Missense_Mutation_p.P233A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	338					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCTTTAGCTCCTACACCTTC	0.453000													6	284					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673453	196673453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:196673453C>A	ENST00000312428.6	-	53	10136	c.10036G>T	c.(10036-10038)Gag>Tag	p.E3346*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3346					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGCATAAACTCTCTACGAATG	0.368000													5	107					1.23904e-05	1.57878e-05	1	1	0
BTBD9	114781	broad.mit.edu	37	6	38256120	38256120	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:38256120T>C	ENST00000481247.1	-	8	1533	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	BTBD9_ENST00000408958.1_Missense_Mutation_p.Y393C|BTBD9_ENST00000419706.2_Missense_Mutation_p.Y431C|BTBD9_ENST00000314100.6_Missense_Mutation_p.Y393C|BTBD9_ENST00000403056.1_Missense_Mutation_p.Y461C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	461					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGACATGTGTAGCCAGAATC	0.468000													6	63					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479863	228479863	+	Splice_Site	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:228479863G>T	ENST00000570156.2	+	44	11964		c.e44+1		OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000359599.6_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCATCAGGGGTAAAGATCAT	0.597000													4	113					0.184627	0.186994	1	1	0
CCNL2	81669	broad.mit.edu	37	1	1323337	1323337	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:1323337T>C	ENST00000400809.3	-	9	1120	c.1115A>G	c.(1114-1116)aAc>aGc	p.N372S	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.N150S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	372					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTCCTACCCGTTCACGGGGCT	0.602000													6	97					0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38910317	38910317	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr4:38910317G>T	ENST00000358869.2	+	7	938	c.762G>T	c.(760-762)acG>acT	p.T254T	FAM114A1_ENST00000515037.1_Silent_p.T47T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	254						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGACCAAGACGCTCATGGAGA	0.378000													4	49					0.00024832	0.000294997	1	1	0
FN1	2335	broad.mit.edu	37	2	216296657	216296657	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:216296657T>A	ENST00000354785.4	-	4	815	c.446A>T	c.(445-447)aAg>aTg	p.K149M	FN1_ENST00000443816.1_Missense_Mutation_p.K149M|FN1_ENST00000426059.1_Missense_Mutation_p.K149M|FN1_ENST00000336916.4_Missense_Mutation_p.K149M|FN1_ENST00000346544.3_Missense_Mutation_p.K149M|FN1_ENST00000345488.5_Missense_Mutation_p.K149M|FN1_ENST00000323926.6_Missense_Mutation_p.K149M|FN1_ENST00000432072.2_Missense_Mutation_p.K149M|FN1_ENST00000421182.1_Missense_Mutation_p.K149M|FN1_ENST00000359671.1_Missense_Mutation_p.K149M|FN1_ENST00000357867.4_Missense_Mutation_p.K149M|FN1_ENST00000357009.2_Missense_Mutation_p.K149M|FN1_ENST00000356005.4_Missense_Mutation_p.K149M|FN1_ENST00000446046.1_Missense_Mutation_p.K149M			P02751	FINC_HUMAN	fibronectin 1	149	Fibrin- and heparin-binding 1.|Fibronectin type-I 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACCAATCTTGTAGGACTG	0.458000													7	185					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27278902	27278902	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:27278902C>G	ENST00000360131.4	+	7	1420	c.1261C>G	c.(1261-1263)Ccc>Gcc	p.P421A	AGBL5_ENST00000323064.8_Missense_Mutation_p.P421A	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	421					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATACCATCCCCCCCAAAGA	0.517000													30	251					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331617	20331617	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr16:20331617G>T	ENST00000302555.5	-	5	974	c.825C>A	c.(823-825)ccC>ccA	p.P275P	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.P278P|GP2_ENST00000341642.5_Silent_p.P128P|GP2_ENST00000381360.5_Silent_p.P131P			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	278	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TAGCCTGGACGGGGCTGGTCA	0.562000													5	122					3.59834e-05	4.5483e-05	1	1	0
MXRA8	54587	broad.mit.edu	37	1	1290366	1290366	+	Silent	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:1290366C>G	ENST00000309212.6	-	5	675	c.645G>C	c.(643-645)ccG>ccC	p.P215P	MXRA8_ENST00000445648.2_Silent_p.P215P|MXRA8_ENST00000342753.4_Silent_p.P114P	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	215	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCGGTCGTGCGGGACCCCGG	0.736000													3	15					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8167823	8167823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:8167823G>T	ENST00000314666.6	+	17	2086	c.1953G>T	c.(1951-1953)caG>caT	p.Q651H	PFAS_ENST00000545834.1_Missense_Mutation_p.Q227H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	651					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCATGCTGCAGCCTCTGGCCT	0.647000													5	94					0.00116845	0.00132816	1	1	0
CYP2A13	1553	broad.mit.edu	37	19	41601771	41601771	+	Silent	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:41601771T>C	ENST00000330436.3	+	9	1410	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	470					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CGCCTAAGGATATCGACGTGT	0.562000													4	210					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036057	110036057	+	Silent	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:110036057C>T	ENST00000453089.2	+	5	3035	c.2154C>T	c.(2152-2154)gaC>gaT	p.D718D	ZC3H12C_ENST00000528673.1_Silent_p.D750D|ZC3H12C_ENST00000278590.3_Silent_p.D749D			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	749							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CGAGAATAGACAGCATCTCTG	0.572000													9	192					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111910035	111910035	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:111910035C>G	ENST00000280346.6	+	7	1702	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	DLAT_ENST00000537636.1_Missense_Mutation_p.P119R|DLAT_ENST00000393051.1_Missense_Mutation_p.P243R	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	348					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCAGCTACTCCTGCTGGACCA	0.443000													4	246					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371782	139371782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:139371782G>A	ENST00000313050.7	-	1	359	c.286C>T	c.(286-288)Cac>Tac	p.H96Y		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2060					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCATGTGTGTGAGGAACAAGC	0.582000													5	133					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365530	36365530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:36365530G>A	ENST00000221891.4	+	9	1373	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	APLP1_ENST00000537454.2_Missense_Mutation_p.G355D|APLP1_ENST00000586861.1_Missense_Mutation_p.G388D|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	394					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGGAGGGCTTCCTGGCA	0.682000													4	133					0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77797373	77797373	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr18:77797373C>G	ENST00000306735.5	+	3	383	c.245C>G	c.(244-246)tCa>tGa	p.S82*	RBFA_ENST00000262197.7_Nonsense_Mutation_p.S82*|RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	82					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGGAGCACCTCAAAGAAAACC	0.527000													4	109					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10434993	10434993	+	Missense_Mutation	SNP	G	G	T	rs150566222		TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:10434993G>T	ENST00000245503.5	-	22	3038	c.2654C>A	c.(2653-2655)aCg>aAg	p.T885K	MYH2_ENST00000397183.2_Missense_Mutation_p.T885K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	885					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T885M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTCAACAGCGTCACCATCTT	0.433000													4	106					0.00909568	0.00997998	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20269545	20269545	+	Missense_Mutation	SNP	G	G	T	rs80161121	byFrequency	TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr20:20269545G>T	ENST00000245957.5	+	23	3165	c.3089G>T	c.(3088-3090)cGg>cTg	p.R1030L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1030										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AATCTTGACCGGCTCATCCCC	0.502000													6	25					0.00307968	0.00347564	1	1	0
UBR2	23304	broad.mit.edu	37	6	42619760	42619760	+	Splice_Site	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:42619760G>A	ENST00000372899.1	+	24	2823		c.e24-1		UBR2_ENST00000372883.3_Splice_Site|UBR2_ENST00000372901.1_Splice_Site	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2						cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTTTTATTAGGCAGAAGAAG	0.338000													8	160					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198700	52198700	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr20:52198700G>T	ENST00000371471.2	-	2	1091	c.666C>A	c.(664-666)ggC>ggA	p.G222G	ZNF217_ENST00000302342.3_Silent_p.G222G			O75362	ZN217_HUMAN	zinc finger protein 217	222					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAAATAGGAAGCCACAAACCA	0.507000													12	187					6.40141e-05	7.96396e-05	1	1	0
MMP3	4314	broad.mit.edu	37	11	102710879	102710879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:102710879C>A	ENST00000299855.5	-	6	1151	c.895G>T	c.(895-897)Gtc>Ttc	p.V299F		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	299	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGAGTGCTGACAGCATCAAAG	0.483000													4	91					0.00909568	0.00997998	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168267	10168267	+	Silent	SNP	A	A	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr12:10168267A>T	ENST00000396502.1	+	5	749	c.621A>T	c.(619-621)tcA>tcT	p.S207S	CLEC12B_ENST00000338896.5_Silent_p.S207S|RP11-133L14.5_ENST00000544225.1_RNA	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	207	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TGGGATTATCATGGGACTCCT	0.433000													9	135					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882443	228882443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:228882443C>A	ENST00000392056.3	-	7	3173	c.3127G>T	c.(3127-3129)Gca>Tca	p.A1043S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1043S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1043						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATCTTGGCTGCCACTTCATTG	0.512000													8	141					0.000274275	0.000321003	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732834	152732834	+	Missense_Mutation	SNP	C	C	T	rs147534038	byFrequency	TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:152732834C>T	ENST00000368773.1	+	2	828	c.770C>T	c.(769-771)cCt>cTt	p.P257L	KPRP_ENST00000606109.1_Missense_Mutation_p.P257L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	257	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGCCTTCCTCCTCCTCGG	0.607000													8	98					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633442	32633442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:32633442C>A	ENST00000242310.4	-	1	2225	c.2136G>T	c.(2134-2136)caG>caT	p.Q712H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	712					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATGCCAACCTGCATCATTA	0.413000													4	153					1.23904e-05	1.57878e-05	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092424	151092424	+	Silent	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chrX:151092424A>G	ENST00000360243.2	+	3	555	c.288A>G	c.(286-288)ccA>ccG	p.P96P	MAGEA4_ENST00000276344.2_Silent_p.P96P|MAGEA4_ENST00000393920.1_Silent_p.P96P|MAGEA4_ENST00000393921.1_Silent_p.P96P|MAGEA4_ENST00000370340.3_Silent_p.P96P|MAGEA4_ENST00000370337.4_Silent_p.P96P|MAGEA4_ENST00000370335.1_Silent_p.P96P	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	96				GP -> EA (in Ref. 3; BAA06841).			protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGGGCCAAGCACCTCGC	0.567000													7	111					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296304	10296304	+	Silent	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:10296304A>G	ENST00000403437.2	-	37	5401	c.5307T>C	c.(5305-5307)gcT>gcC	p.A1769A	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1769					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCAGCTCCTCAGCCATCATGG	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	203					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183616853	183616853	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:183616853C>T	ENST00000264065.6	+	16	1904	c.1489C>T	c.(1489-1491)Ctt>Ttt	p.L497F		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	497	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATCAAATCTTCTTTATGGTCA	0.358000													6	139					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66521990	66521990	+	Silent	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:66521990C>G	ENST00000589228.1	+	7	773	c.645C>G	c.(643-645)gtC>gtG	p.V215V	PRKAR1A_ENST00000358598.2_Silent_p.V215V|PRKAR1A_ENST00000588188.2_Silent_p.V215V|PRKAR1A_ENST00000536854.2_Silent_p.V215V|PRKAR1A_ENST00000586397.1_Silent_p.V215V|PRKAR1A_ENST00000392711.1_Silent_p.V215V	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	215					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CAGCCACTGTCAAAGCAAAGA	0.438000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				19	97					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21226340	21226340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:21226340G>T	ENST00000602326.1	-	14	2282	c.1699C>A	c.(1699-1701)Cta>Ata	p.L567I	EIF4G3_ENST00000537738.1_Missense_Mutation_p.L14I|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L561I|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.L561I|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L281I|EIF4G3_ENST00000544689.1_Missense_Mutation_p.L104I|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L567I|EIF4G3_ENST00000536266.1_Missense_Mutation_p.L165I	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	561					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACTTTTTTTAGGTCAGAGGGG	0.418000													7	281					8.12818e-05	9.87887e-05	1	1	0
ASMT	438	broad.mit.edu	37	X	1743162	1743162	+	Splice_Site	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chrX:1743162C>G	ENST00000381241.3	+	3	444	c.244_splice	c.e3-1	p.A82_splice	ASMT_ENST00000381229.4_Splice_Site_p.A82_splice|ASMT_ENST00000381233.3_Splice_Site_p.A82_splice	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	82					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGTGTTTCAGCTTTCTATCGA	0.522000													8	189					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230486707	230486707	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:230486707G>T	ENST00000321327.2	-	5	980	c.981C>A	c.(979-981)atC>atA	p.I327I	PGBD5_ENST00000525115.1_Silent_p.I228I|PGBD5_ENST00000391860.1_Silent_p.I182I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	228						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCTCACCTGGATGATGAAGC	0.557000													4	108					0.00024832	0.000294997	1	1	0
HEY2	23493	broad.mit.edu	37	6	126080787	126080787	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:126080787G>A	ENST00000368364.3	+	5	1050	c.853G>A	c.(853-855)Gca>Aca	p.A285T	HEY2_ENST00000368365.1_Missense_Mutation_p.A239T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	285	Ala-rich.				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			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)		CTTCGCGGGGGCATTCCCCAT	0.662000													5	338					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088278	4088278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:4088278G>T	ENST00000341657.4	-	12	1569	c.1534C>A	c.(1534-1536)Cag>Aag	p.Q512K	ANKFY1_ENST00000570535.1_Missense_Mutation_p.Q554K|ANKFY1_ENST00000574367.1_Missense_Mutation_p.Q512K|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	512						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCGCCTTGCTGCAGGAGCTCT	0.607000													5	59					0.184627	0.186994	1	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145755946	145755946	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr8:145755946C>T	ENST00000276826.5	-	10	3313	c.3112G>A	c.(3112-3114)Gcc>Acc	p.A1038T	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.A1038T|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.A1069T			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1038	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ATCACCATGGCCAGGTTGCTG	0.677000													3	25					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4259739	4259739	+	Splice_Site	SNP	A	A	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr7:4259739A>T	ENST00000404826.2	+	39	5678		c.e39-1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGCGGCTGCAGGGGTGAGCA	0.567000													4	83					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036859	240036859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:240036859C>A	ENST00000345617.3	-	13	2457	c.1666G>T	c.(1666-1668)Gtg>Ttg	p.V556L	HDAC4_ENST00000541256.1_Missense_Mutation_p.V530L|HDAC4_ENST00000543185.1_Missense_Mutation_p.V140L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	556					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTCACCTGCACGCCGGCCTGT	0.697000													8	196					0.000442599	0.000510443	1	1	0
HSF5	124535	broad.mit.edu	37	17	56540598	56540598	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:56540598C>T	ENST00000323777.3	-	4	1196	c.1087G>A	c.(1087-1089)Gat>Aat	p.D363N		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	363						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTATTTTCATCAGTAGTACTG	0.403000													4	138					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632530	32632530	+	Silent	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:32632530G>T	ENST00000242310.4	-	1	3137	c.3048C>A	c.(3046-3048)cgC>cgA	p.R1016R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1016			R -> C (in dbSNP:rs35905429).		male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCAGGGAAAGGCGACGAAGGT	0.458000													14	342					1.99824e-07	2.76948e-07	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51617179	51617179	+	Missense_Mutation	SNP	G	G	A	rs150099561	by1000genomes	TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr8:51617179G>A	ENST00000522124.1	+	16	1719	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	SNTG1_ENST00000517473.1_Missense_Mutation_p.R353Q|SNTG1_ENST00000276467.5_Missense_Mutation_p.R353Q|SNTG1_ENST00000518864.1_Missense_Mutation_p.R353Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	353	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTGCTGGACCGACGGAAACAG	0.557000													5	113					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975606	94975606	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr12:94975606C>A	ENST00000261226.4	-	2	918	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	TMCC3_ENST00000551457.1_Missense_Mutation_p.G232C	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	263						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCGGCCGAGCCTGACGTGCCA	0.602000													7	92					5.18039e-06	6.76448e-06	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123155939	123155939	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr4:123155939T>C	ENST00000264501.4	+	27	3708	c.3335T>C	c.(3334-3336)tTa>tCa	p.L1112S	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1112S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1112S			Q2LD37	K1109_HUMAN	KIAA1109	1112					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTGTGGTTTTTATGGCCAGAT	0.338000													11	102					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288608	151288608	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:151288608C>G	ENST00000368875.2	-	3	966	c.386G>C	c.(385-387)aGa>aCa	p.R129T	PI4KB_ENST00000368874.4_Missense_Mutation_p.R117T|PI4KB_ENST00000368873.1_Missense_Mutation_p.R117T|PI4KB_ENST00000271657.5_Missense_Mutation_p.R129T|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.R117T	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	117					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCGCCGTCTTCTTGCTCCTTT	0.527000													7	111					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547920	100547920	+	Silent	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chrX:100547920C>A	ENST00000372907.3	-	1	125	c.114G>T	c.(112-114)ggG>ggT	p.G38G	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	38					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGTTTCAGACCCACGGTCGA	0.527000													19	361					8.34094e-07	1.12638e-06	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120351073	120351073	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:120351073G>C	ENST00000397843.2	+	38	4337	c.4171G>C	c.(4171-4173)Gag>Cag	p.E1391Q	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1372Q|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1288Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1391					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACATAGTGATGAGAATCCATC	0.438000			T	MLL	AML								5	132					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	41					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632528	32632528	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr9:32632528A>T	ENST00000242310.4	-	1	3139	c.3050T>A	c.(3049-3051)cTt>cAt	p.L1017H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1017					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTCAGGGAAAGGCGACGAAG	0.453000													14	347					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299926	107299926	+	Silent	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:107299926T>C	ENST00000282251.5	-	8	1059	c.1032A>G	c.(1030-1032)ttA>ttG	p.L344L	CWF19L2_ENST00000433523.1_Silent_p.L344L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	344							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TACACGTTTCTAAAGACCCAG	0.348000													3	67					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628560	51628560	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:51628560G>A	ENST00000440804.3	+	1	396	c.329G>A	c.(328-330)aGa>aAa	p.R110K	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R110K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	110	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGAGATGCCAGAAGAAGTGAT	0.498000													5	111					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897346	38897346	+	Silent	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:38897346C>T	ENST00000359357.3	+	73	10781	c.10527C>T	c.(10525-10527)ggC>ggT	p.G3509G	DNAH8_ENST00000441566.1_Silent_p.G3473G|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.G3726G					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCCTTGGGCCGACCCCTTC	0.408000													6	107					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400529	78400529	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr12:78400529G>T	ENST00000397909.2	+	8	1384	c.1211G>T	c.(1210-1212)aGt>aTt	p.S404I	NAV3_ENST00000266692.7_Missense_Mutation_p.S404I|NAV3_ENST00000228327.6_Missense_Mutation_p.S404I|NAV3_ENST00000536525.2_Missense_Mutation_p.S404I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	404						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCCTCCCAGTTCAGGACCT	0.488000										HNSCC(70;0.22)			6	195					2.7689e-08	3.90612e-08	1	1	0
SPATA17	128153	broad.mit.edu	37	1	217915384	217915384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:217915384G>T	ENST00000366933.4	+	6	518	c.463G>T	c.(463-465)Gag>Tag	p.E155*		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	155						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGAAAGGGAAGAGAAGAAAAG	0.458000													5	115					1.23904e-05	1.57878e-05	1	1	0
FBN2	2201	broad.mit.edu	37	5	127671178	127671178	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:127671178A>T	ENST00000508053.1	-	35	4790	c.3816T>A	c.(3814-3816)taT>taA	p.Y1272*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.Y1239*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.Y1272*|FBN2_ENST00000507835.1_Nonsense_Mutation_p.Y122*			P35556	FBN2_HUMAN	fibrillin 2	1272	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATCAGGGCATAACCCTCAC	0.418000													16	205					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140992398	140992398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:140992398G>T	ENST00000389484.3	-	90	14587	c.13616C>A	c.(13615-13617)cCc>cAc	p.P4539H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4539					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		taggtagatgggcggcgctgt	0.423000										TSP Lung(27;0.18)			6	80					0.0215528	0.0227022	1	1	0
SEPP1	6414	broad.mit.edu	37	5	42800829	42800829	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:42800829G>C	ENST00000514985.1	-	5	1395	c.1139C>G	c.(1138-1140)tCa>tGa	p.S380*	SEPP1_ENST00000506577.1_Nonsense_Mutation_p.S380*|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.S380*|CCDC152_ENST00000361970.5_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	380					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TATTTAGTTTGAAGGTCATTC	0.373000													7	118					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273162	28273162	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr15:28273162C>T	ENST00000354638.3	-	4	525	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	OCA2_ENST00000353809.5_Missense_Mutation_p.E124K|OCA2_ENST00000382996.2_Missense_Mutation_p.E124K	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	124					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAAGACTCTTCAGCAGTGATG	0.507000									Oculocutaneous Albinism				4	164					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088277	4088277	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:4088277T>A	ENST00000341657.4	-	12	1570	c.1535A>T	c.(1534-1536)cAg>cTg	p.Q512L	ANKFY1_ENST00000570535.1_Missense_Mutation_p.Q554L|ANKFY1_ENST00000574367.1_Missense_Mutation_p.Q512L|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	512						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCGCCTTGCTGCAGGAGCTC	0.607000													5	61					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502213	70502213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:70502213C>A	ENST00000310961.5	+	21	2513	c.2095C>A	c.(2095-2097)Cag>Aag	p.Q699K	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q694K|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	694						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCGCCTTCCCAGGCTTCCTC	0.443000													5	113					0.000602214	0.000689492	1	1	0
POTEH	23784	broad.mit.edu	37	22	16267008	16267008	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr22:16267008C>T	ENST00000343518.6	-	9	1492	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	481										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATTAATCCATCATCACCATTG	0.428000													7	486					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259840	215259840	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:215259840G>T	ENST00000444842.2	+	2	326	c.176G>T	c.(175-177)tGg>tTg	p.W59L	KCNK2_ENST00000391894.2_Missense_Mutation_p.W44L|KCNK2_ENST00000391895.2_Missense_Mutation_p.W55L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	59							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTTATGAAATGGAAGACGGTC	0.512000													10	62					0.00621372	0.00696289	1	1	0
SLC9A6	10479	broad.mit.edu	37	X	135126815	135126815	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chrX:135126815G>A	ENST00000370695.4	+	16	2073	c.2038G>A	c.(2038-2040)Gtt>Att	p.V680I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.V628I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.V648I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	648					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AACACGCCTGGTTCTTCCAAT	0.453000													5	140					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216649	10216649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:10216649G>T	ENST00000418404.3	-	29	4170	c.4007C>A	c.(4006-4008)gCc>gAc	p.A1336D	MYH13_ENST00000570743.1_Missense_Mutation_p.A1336D|MYH13_ENST00000252172.4_Missense_Mutation_p.A1336D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1336					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTGCAGGGCGTGCGCCAT	0.547000													5	115					0.0215528	0.0227022	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103060498	103060498	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:103060498T>C	ENST00000375735.2	+	45	7534	c.7390T>C	c.(7390-7392)Tca>Cca	p.S2464P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S2464P|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2464	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGTTCTTCATCAAAAATTTA	0.323000													4	128					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111910014	111910014	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:111910014C>T	ENST00000280346.6	+	7	1681	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	DLAT_ENST00000537636.1_Missense_Mutation_p.S112L|DLAT_ENST00000393051.1_Missense_Mutation_p.S236L	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	341					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCTACACCTTCAGCACCCTGC	0.463000													5	281					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)			5	73					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8713907	8713907	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr20:8713907G>A	ENST00000378641.3	+	19	2386	c.1911G>A	c.(1909-1911)atG>atA	p.M637I	PLCB1_ENST00000378637.2_Missense_Mutation_p.M637I|PLCB1_ENST00000338037.6_Missense_Mutation_p.M637I|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	637	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAATAAATATGGGGATGTATG	0.393000													10	133					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372245	43372245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:43372245C>A	ENST00000244296.2	-	5	1388	c.1251G>T	c.(1249-1251)tgG>tgT	p.W417C	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000436291.2_Intron|PSG1_ENST00000312439.6_Intron|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				ATGCTGGGATCCACTTACCAG	0.478000													19	361					2.39556e-15	3.50462e-15	1	1	0
MMP3	4314	broad.mit.edu	37	11	102710880	102710880	+	Silent	SNP	A	A	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:102710880A>C	ENST00000299855.5	-	6	1150	c.894T>G	c.(892-894)gcT>gcG	p.A298A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	298	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GAGTGCTGACAGCATCAAAGG	0.483000													4	93					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29404639	29404639	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr2:29404639T>A	ENST00000320081.5	+	16	2253	c.1998T>A	c.(1996-1998)gaT>gaA	p.D666E	CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.D666E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	666	CAP-Gly 3.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GAAAAAATGATGGGTCAGTGG	0.507000													9	173					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23394235	23394235	+	Silent	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr14:23394235G>A	ENST00000324366.8	-	8	1015	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PRMT5_ENST00000216350.8_Silent_p.F203F|PRMT5_ENST00000538452.1_Silent_p.F158F|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Silent_p.F247F|PRMT5_ENST00000553897.1_Silent_p.F220F|PRMT5_ENST00000397440.4_Silent_p.F93F	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	264					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTGTGATGATGAACTGCACCT	0.473000													5	187					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125061964	125061964	+	Silent	SNP	A	A	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr8:125061964A>G	ENST00000522917.1	+	22	3047	c.2841A>G	c.(2839-2841)ggA>ggG	p.G947G	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.G947G	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	947						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTCTCTGGAGGGGATCTCC	0.537000													9	108					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335132	7335132	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:7335132G>C	ENST00000318881.6	+	3	1241	c.1004G>C	c.(1003-1005)aGg>aCg	p.R335T	SYT9_ENST00000396716.2_Missense_Mutation_p.R303T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	335						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATTTCCCCAGGGAGTGCATC	0.468000													5	146					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862982	10862982	+	RNA	SNP	C	C	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr21:10862982C>A	ENST00000559480.1	+	0	278																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ACCAGGGACACATCCATGAGC	0.507000													9	872					0.000442599	0.000510443	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20258003	20258003	+	Silent	SNP	G	G	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr20:20258003G>C	ENST00000245957.5	+	22	2773	c.2697G>C	c.(2695-2697)cgG>cgC	p.R899R	C20orf26_ENST00000377309.2_Silent_p.R255R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	899										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTATGTACCGGGATGCGATCC	0.642000													10	127					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828848	125828848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr3:125828848G>T	ENST00000393434.2	-	20	2635	c.2286C>A	c.(2284-2286)tgC>tgA	p.C762*	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.C661*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.C772*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.C762*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	762	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGCCATGCTGGCAGTACTCCA	0.612000													4	45					0.150653	0.154567	1	1	0
ZNF160	90338	broad.mit.edu	37	19	53572139	53572139	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr19:53572139A>C	ENST00000601421.1	-	3	2416	c.1540T>G	c.(1540-1542)Tca>Gca	p.S514A	ZNF160_ENST00000599056.1_Missense_Mutation_p.S550A|ZNF160_ENST00000429604.1_Missense_Mutation_p.S550A|ZNF160_ENST00000418871.1_Missense_Mutation_p.S550A			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	550					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CTAAGGTGTGATTTTTGAGTG	0.418000													6	103					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241680549	241680549	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:241680549T>G	ENST00000366560.3	-	2	238	c.200A>C	c.(199-201)tAt>tCt	p.Y67S	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	67					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GGCGCCATAATACTTATCATT	0.403000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				8	92					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85716095	85716095	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr4:85716095G>A	ENST00000322366.6	-	20	3612	c.3205C>T	c.(3205-3207)Cct>Tct	p.P1069S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1069S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1069						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTATTTGTAGGAGCATTATGA	0.378000													4	40					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													2	4	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127782271	127782271	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr5:127782271delC	ENST00000508053.1	-	13	1829	c.855delG	c.(853-855)ggfs	p.G285fs	FBN2_ENST00000508989.1_Frame_Shift_Del_p.G252fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.G285fs			P35556	FBN2_HUMAN	fibrillin 2	285	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGGCATATCCCTGGGATAG	0.393													17	150	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													3	4	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	357	---	---	---	---					
MARK2	2011	broad.mit.edu	37	11	63672263	63672263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr11:63672263delC	ENST00000402010.2	+	16	2261	c.1682delC	c.(1681-1683)gcfs	p.A561fs	MARK2_ENST00000513765.2_Frame_Shift_Del_p.A528fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.A561fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.A527fs|MARK2_ENST00000408948.3_Frame_Shift_Del_p.A473fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.A561fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.A481fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.A506fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.A507fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.A473fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.A506fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.A507fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.A560fs	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	561					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CACAGCACAGCCCCCCAGCGT	0.642													12	155	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1																						GACGCTGTTCTTttttttttt	0.453													2	4	---	---	---	---					
DSEL	92126	broad.mit.edu	37	18	65180466	65180466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8621-01A-11D-2393-08	TCGA-55-8621-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	044d44bc-4455-45df-a367-2b7d8445acc8	30f20fed-2910-4203-bb2c-bfefef047218	g.chr18:65180466delC	ENST00000310045.7	-	2	2883	c.1410delG	c.(1408-1410)tgfs	p.W470fs	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	460						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAAAACTTCTCCACCCATCAA	0.443													7	150	---	---	---	---					
