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
TUBB1	81027	broad.mit.edu	37	20	57598597	57598597	+	Missense_Mutation	SNP	G	G	A	rs147465283		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:57598597G>A	ENST00000217133.1	+	3	488	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	73					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGGGACGATGGACAGCATTC	0.463000													30	106					0	0	0.001512	0	0
ESRRG	2104	broad.mit.edu	37	1	216737606	216737606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:216737606C>A	ENST00000391890.3	-	7	1286	c.769G>T	c.(769-771)Gac>Tac	p.D257Y	ESRRG_ENST00000366938.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000361525.3_Missense_Mutation_p.D250Y|ESRRG_ENST00000366940.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000493603.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000366937.1_Missense_Mutation_p.D285Y|ESRRG_ENST00000408911.3_Missense_Mutation_p.D273Y|ESRRG_ENST00000487276.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000463665.1_Missense_Mutation_p.D211Y|ESRRG_ENST00000493748.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000360012.3_Missense_Mutation_p.D250Y|ESRRG_ENST00000359162.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000361395.2_Missense_Mutation_p.D250Y	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	273					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D273N(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AACTCTCGGTCGGCCAAGTCA	0.458000													17	85					5.3912e-06	3.45512e-05	0.00074312	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26205156	26205156	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:26205156G>A	ENST00000360441.4	+	1	299	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	95					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				AAGAGACAGGGACGCACTCTT	0.527000													16	60					0	0	0.000566183	0	0
ATR	545	broad.mit.edu	37	3	142180856	142180856	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:142180856T>A	ENST00000350721.4	-	42	7239	c.7118A>T	c.(7117-7119)gAa>gTa	p.E2373V	ATR_ENST00000383101.3_Missense_Mutation_p.E2309V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2373	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATCCCACATTCATCATTTAG	0.313000								Other conserved DNA damage response genes					47	189					0	0	0.000781405	0	0
TIPRL	261726	broad.mit.edu	37	1	168153231	168153231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:168153231G>A	ENST00000367833.2	+	2	341	c.196G>A	c.(196-198)Gag>Aag	p.E66K	TIPRL_ENST00000367830.3_Missense_Mutation_p.E66K	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	66					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					CTTTGGAATTGAGTTCAATGC	0.428000													17	72					0	0	0.000566183	0	0
ABCA13	154664	broad.mit.edu	37	7	48314127	48314127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:48314127C>T	ENST00000435803.1	+	17	4888	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1622					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATAATTTCACCTGAAATAAT	0.378000													26	218					0	0	0.000586117	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346487	70346487	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:70346487G>A	ENST00000305107.6	-	6	1498	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.T348T|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	484					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTGGAACCAGGTGAGGTCGT	0.498000													35	169					0	0	0.000814825	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458562	120458562	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:120458562C>G	ENST00000256646.2	-	34	7002	c.6783G>C	c.(6781-6783)gaG>gaC	p.E2261D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2261					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTGGGTCTCATTCACCT	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				71	250					0	0	0.000781405	0	0
HLA-A	3105	broad.mit.edu	37	6	29911172	29911172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:29911172G>A	ENST00000396634.1	+	5	812	c.471G>A	c.(469-471)tgG>tgA	p.W157*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W157*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W157*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W157*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	157	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGCGCTCTTGGACCGCGGCGG	0.672000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	32					0	0	0.00136819	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209949072	209949072	+	Silent	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:209949072C>A	ENST00000367024.1	+	11	1560	c.1044C>A	c.(1042-1044)tcC>tcA	p.S348S	TRAF3IP3_ENST00000367026.3_Silent_p.S328S|TRAF3IP3_ENST00000477431.1_Silent_p.S84S|TRAF3IP3_ENST00000367025.3_Silent_p.S348S|TRAF3IP3_ENST00000400959.3_Silent_p.S328S|TRAF3IP3_ENST00000010338.4_Silent_p.S328S|TRAF3IP3_ENST00000367023.1_Silent_p.S84S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	348						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGCTTCAGTCCAAACTGCAGG	0.582000													8	40					0.000157383	0.000966106	0.000157383	1	0
UPP2	151531	broad.mit.edu	37	2	158991382	158991382	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:158991382C>T	ENST00000605860.1	+	10	1151	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	UPP2_ENST00000409859.4_Missense_Mutation_p.R369W|UPP2_ENST00000005756.4_Missense_Mutation_p.R312W|UPP2_ENST00000460456.1_3'UTR			O95045	UPP2_HUMAN	uridine phosphorylase 2	312					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CATCAGACGGCGGCTTGGACT	0.493000													8	90					0	0	0.000442599	0	0
GIN1	54826	broad.mit.edu	37	5	102442428	102442428	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:102442428T>G	ENST00000399004.2	-	3	419	c.325A>C	c.(325-327)Aaa>Caa	p.K109Q	GIN1_ENST00000508629.1_Missense_Mutation_p.K109Q	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	109					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ACCCACTGTTTGACATCATTG	0.353000													4	27					0	0	0.00024832	0	0
FCRL3	115352	broad.mit.edu	37	1	157666098	157666098	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.V288V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTAGATTCACATTAGACA	0.522000													14	97					0	0	0.000308642	0	0
CEP63	80254	broad.mit.edu	37	3	134278043	134278043	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:134278043A>C	ENST00000337090.3	+	14	1898	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K575N|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K575N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	575					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCACTACAAAACAGATCTTC	0.443000													53	168					0	0	0.000781405	0	0
TFAP2E	339488	broad.mit.edu	37	1	36054125	36054125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:36054125G>A	ENST00000373235.3	+	4	965	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	253						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GTGCCTCAACGCCTCCCTCCT	0.647000													24	65					0	0	0.000720815	0	0
AMACR	23600	broad.mit.edu	37	5	33998863	33998863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:33998863G>C	ENST00000335606.6	-	4	710	c.622C>G	c.(622-624)Cga>Gga	p.R208G	AMACR_ENST00000441713.2_Missense_Mutation_p.S154W|AMACR_ENST00000382085.3_Missense_Mutation_p.R208G|AMACR_ENST00000382072.2_Missense_Mutation_p.S154W|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.R193G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	208					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TTCTGTCCTCGAGGTGCTTCC	0.433000													6	120					0	0	0.000157383	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290462	132290462	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:132290462A>G	ENST00000295171.6	+	6	1040	c.902A>G	c.(901-903)gAa>gGa	p.E301G	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E235G	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	301										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCCTCCTGGAAGGGAGCCAG	0.692000													13	56					0	0	0.000422831	0	0
PCDH18	54510	broad.mit.edu	37	4	138451748	138451748	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:138451748G>T	ENST00000344876.4	-	1	1881	c.1495C>A	c.(1495-1497)Caa>Aaa	p.Q499K	PCDH18_ENST00000412923.2_Missense_Mutation_p.Q499K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q279K|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	499	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TATGTCACTTGCCCATTTTCT	0.408000													17	135					1.02788e-11	6.71419e-11	0.000566183	1	0
ANO7	50636	broad.mit.edu	37	2	242162677	242162677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:242162677G>A	ENST00000274979.8	+	22	2663	c.2560G>A	c.(2560-2562)Gtc>Atc	p.V854I	ANO7_ENST00000402430.3_Missense_Mutation_p.V853I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	854						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCTTCGTCATTGTGTT	0.567000													44	134					0	0	0.000589545	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409852	121409852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:121409852C>T	ENST00000393667.3	-	14	8469	c.8359G>A	c.(8359-8361)Gat>Aat	p.D2787N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2782N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2782					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGAAGAGCATCTCTCTCTCTG	0.418000													7	76					0	0	0.000157383	0	0
DDR2	4921	broad.mit.edu	37	1	162737067	162737067	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:162737067G>C	ENST00000367922.2	+	12	1649	c.1211G>C	c.(1210-1212)tGc>tCc	p.C404S	DDR2_ENST00000367921.3_Missense_Mutation_p.C404S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	404					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTGATTGGCTGCTTGGTGGCC	0.483000													30	165					0	0	0.001512	0	0
ALG2	85365	broad.mit.edu	37	9	101980621	101980621	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:101980621C>T	ENST00000476832.1	-	2	907	c.846G>A	c.(844-846)caG>caA	p.Q282Q	ALG2_ENST00000319033.6_Silent_p.Q189Q	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	282					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCTTCAATTCCTGATAATGTT	0.483000													32	73					0	0	0.000339439	0	0
SPAG17	200162	broad.mit.edu	37	1	118640375	118640375	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:118640375G>T	ENST00000336338.5	-	7	994	c.929C>A	c.(928-930)aCa>aAa	p.T310K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	310						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAGAGATTTGTTTCAGGTTT	0.378000													326	47					2.44235e-143	1.64818e-142	0.000781405	1	0
KCNA6	3742	broad.mit.edu	37	12	4919817	4919817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:4919817C>T	ENST00000433855.1	+	1	1476	c.610C>T	c.(610-612)Cga>Tga	p.R204*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.R204*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	204						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGTAGATGGTCGAGGTGGAAA	0.542000										HNSCC(72;0.22)			11	60					0	0	0.000673444	0	0
PIGM	93183	broad.mit.edu	37	1	160001164	160001164	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:160001164G>A	ENST00000368090.2	-	1	619	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	122					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAAGCCTGGCGGCGCCCCA	0.577000													12	64					0	0	0.000219431	0	0
CRLF2	64109	broad.mit.edu	37	X	1325403	1325403	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:1325403C>A	ENST00000381567.3	-	3	271	c.272G>T	c.(271-273)cGa>cTa	p.R91L	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.R91L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	91						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGTCGTCTCGCTGCTCTGC	0.507000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								5	143					0.00116845	0.00696284	0.00116845	1	0
SERPIND1	3053	broad.mit.edu	37	22	21134470	21134470	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134470C>T	ENST00000215727.5	+	2	1153	c.870C>T	c.(868-870)ctC>ctT	p.L290L	SERPIND1_ENST00000406799.1_Silent_p.L290L|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	290					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TGATGATTCTCAACTGCATCT	0.418000													617	870					0	0	0.000781405	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111302	7111302	+	Silent	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:7111302T>C	ENST00000306904.5	+	1	1138	c.951T>C	c.(949-951)gaT>gaC	p.D317D		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	317	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCACCCGATGCCTACAGCG	0.687000													7	27					0	0	0.000157383	0	0
OR8S1	341568	broad.mit.edu	37	12	48921776	48921776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:48921776G>A	ENST00000310194.1	+	2	970	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGCCTTCACCGAAGGCCGCAG	0.647000													18	27					0	0	0.00074312	0	0
TMEM206	55248	broad.mit.edu	37	1	212553337	212553337	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:212553337G>A	ENST00000261455.4	-	5	675	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	TMEM206_ENST00000535273.1_Missense_Mutation_p.R241W	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	180						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ACCAGCTCCCGCTTTTTCACT	0.537000													34	72					0	0	0.000692331	0	0
TPO	7173	broad.mit.edu	37	2	1459959	1459959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:1459959G>A	ENST00000345913.4	+	7	815	c.724G>A	c.(724-726)Gcg>Acg	p.A242T	TPO_ENST00000382198.1_Missense_Mutation_p.A242T|TPO_ENST00000382201.3_Missense_Mutation_p.A242T|TPO_ENST00000349624.3_Missense_Mutation_p.A242T|TPO_ENST00000346956.3_Missense_Mutation_p.A242T|TPO_ENST00000337415.3_Missense_Mutation_p.A242T|TPO_ENST00000329066.4_Missense_Mutation_p.A242T|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	242					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACGACATCGCGTTCACACC	0.498000													7	58					0	0	0.000157383	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159705	18159705	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:18159705G>C	ENST00000396275.2	+	3	1317	c.956G>C	c.(955-957)aGa>aCa	p.R319T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	319				R -> K (in Ref. 2; AAL86878).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGGGAAGCAGATTGGAGCAG	0.542000													4	56					0	0	0.00024832	0	0
PXDN	7837	broad.mit.edu	37	2	1648500	1648500	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:1648500G>A	ENST00000252804.4	-	18	3683	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1211					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.I1211I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498000													10	32					0	0	0.000442599	0	0
DICER1	23405	broad.mit.edu	37	14	95571506	95571506	+	Silent	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:95571506T>A	ENST00000526495.1	-	22	3462	c.3171A>T	c.(3169-3171)atA>atT	p.I1057I	DICER1_ENST00000541352.1_Silent_p.I1057I|DICER1_ENST00000343455.3_Silent_p.I1057I|DICER1_ENST00000393063.1_Silent_p.I1057I|DICER1_ENST00000527414.1_Silent_p.I1057I|DICER1_ENST00000556045.1_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1057					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCGATAAAGTATGCTGGGGA	0.488000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				28	169					0	0	0.00127121	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602585	18602585	+	RNA	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:18602585C>T	ENST00000546162.2	+	0	1159					NR_003569.1																						CCCTCAGCCTCGTCATCAGTG	0.587000													28	119					0	0	0.000409698	0	0
TMEM63C	57156	broad.mit.edu	37	14	77722968	77722968	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:77722968G>C	ENST00000298351.4	+	24	2464	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	774						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCAGCCGGAAGAGGGAGAAGA	0.607000													60	131					0	0	0.000781405	0	0
TMEM147	10430	broad.mit.edu	37	19	36037696	36037696	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:36037696G>A	ENST00000392204.2	+	3	511	c.183G>A	c.(181-183)gaG>gaA	p.E61E	TMEM147_ENST00000222284.5_Silent_p.E110E|TMEM147_ENST00000392205.1_Silent_p.E110E	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	110						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCACTGCTGAGCTTATTATGT	0.602000													7	73					0	0	8.12818e-05	0	0
S100A10	6281	broad.mit.edu	37	1	151955750	151955750	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:151955750C>A	ENST00000368811.3	-	3	842	c.183G>T	c.(181-183)caG>caT	p.Q61H	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Missense_Mutation_p.Q61H	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	61	Ancestral calcium site.				signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATCTCTACACTGGTCCAGGT	0.423000													26	124					3.28513e-13	2.15971e-12	0.000586117	1	0
SUSD2	56241	broad.mit.edu	37	22	24582117	24582117	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:24582117G>A	ENST00000358321.3	+	9	1734	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	491	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGCCCGGGACGATGTCCAACG	0.662000													4	21					0	0	0.00024832	0	0
TBXAS1	6916	broad.mit.edu	37	7	139575421	139575421	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:139575421A>G	ENST00000263552.6	+	7	762	c.224A>G	c.(223-225)tAt>tGt	p.Y75C	TBXAS1_ENST00000411653.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000416849.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000448866.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000436047.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000458722.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000425687.1_Missense_Mutation_p.Y7C|TBXAS1_ENST00000455353.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000539806.1_Missense_Mutation_p.Y75C|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000414508.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000336425.5_Missense_Mutation_p.Y74C	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	74					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AGAAAGCTGTATGGACCTCTG	0.338000													3	52					0	0	0.00024832	0	0
TG	7038	broad.mit.edu	37	8	134030138	134030138	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:134030138C>T	ENST00000220616.4	+	38	6718	c.6678C>T	c.(6676-6678)gaC>gaT	p.D2226D	TG_ENST00000519543.1_Silent_p.D359D|TG_ENST00000377869.1_Silent_p.D2169D|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Silent_p.D596D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2226					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGTGGACCAGTTCCTTG	0.617000													79	104					0	0	0.000781405	0	0
MAP3K4	4216	broad.mit.edu	37	6	161530868	161530868	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:161530868A>G	ENST00000392142.4	+	23	4466	c.4318A>G	c.(4318-4320)Att>Gtt	p.I1440V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1386V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1436V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1390V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1440	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGAACATGTGATTAGGCTGTA	0.488000													25	88					0	0	0.000720815	0	0
APLP1	333	broad.mit.edu	37	19	36365411	36365411	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:36365411C>A	ENST00000221891.4	+	9	1254	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	APLP1_ENST00000586861.1_Missense_Mutation_p.F348L|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.F315L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	354					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)			CCCAGCACTTCCAGTCCATTC	0.617000													52	129					3.50607e-19	2.33509e-18	0.000781405	1	0
TRMT44	152992	broad.mit.edu	37	4	8472843	8472843	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:8472843C>T	ENST00000389737.4	+	10	1960	c.1960C>T	c.(1960-1962)Ctg>Ttg	p.L654L		NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		AGCCAACGAGCTGGACACGGA	0.557000													24	212					0	0	0.000586117	0	0
KIF21B	23046	broad.mit.edu	37	1	200944711	200944711	+	Silent	SNP	G	G	A	rs150393728		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:200944711G>A	ENST00000332129.2	-	32	4807	c.4491C>T	c.(4489-4491)ctC>ctT	p.L1497L	KIF21B_ENST00000360529.5_Silent_p.L1497L|KIF21B_ENST00000461742.2_Silent_p.L1510L|KIF21B_ENST00000422435.2_Silent_p.L1510L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1510					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTGGATGGCGAGACACTCGA	0.607000													9	77					0	0	0.000442599	0	0
NOD1	10392	broad.mit.edu	37	7	30486644	30486644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:30486644C>T	ENST00000222823.4	-	8	2833	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	770					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCTCCGACATCGGTGATCTGG	0.448000													30	147					0	0	0.001512	0	0
CDH1	999	broad.mit.edu	37	16	68853324	68853324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:68853324C>A	ENST00000261769.5	+	11	1898	c.1707C>A	c.(1705-1707)gaC>gaA	p.D569E	CDH1_ENST00000422392.2_Missense_Mutation_p.D508E|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	569	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TAGCTACAGACAATGGTAAGG	0.522000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				11	32					5.50884e-06	3.48665e-05	0.00136819	1	0
RPH3A	22895	broad.mit.edu	37	12	113307581	113307581	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:113307581A>G	ENST00000389385.4	+	9	1125	c.628A>G	c.(628-630)Agg>Ggg	p.R210G	RPH3A_ENST00000548866.1_Missense_Mutation_p.R161G|RPH3A_ENST00000543106.2_Missense_Mutation_p.R210G|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.R210G|RPH3A_ENST00000551052.1_Missense_Mutation_p.R206G|RPH3A_ENST00000447659.2_Missense_Mutation_p.R161G|RPH3A_ENST00000420983.2_Missense_Mutation_p.R210G	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	210	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAAGATAGGAGGGGCCCGGG	0.463000													3	139					0	0	0.000602214	0	0
ZNF675	171392	broad.mit.edu	37	19	23844924	23844924	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:23844924T>G	ENST00000359788.4	-	3	386	c.218A>C	c.(217-219)gAa>gCa	p.E73A	ZNF675_ENST00000601935.1_Missense_Mutation_p.E73A|ZNF675_ENST00000601010.1_Missense_Mutation_p.E73A|ZNF675_ENST00000600313.1_Missense_Mutation_p.E73A|ZNF675_ENST00000599168.1_Missense_Mutation_p.E73A|ZNF675_ENST00000596211.1_Missense_Mutation_p.E73A	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	73	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTGGGGGTTCATTCACCAT	0.418000													28	98					0	0	0.00127121	0	0
DCAF6	55827	broad.mit.edu	37	1	167971802	167971802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:167971802G>A	ENST00000367840.3	+	8	1080	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	DCAF6_ENST00000312263.6_Missense_Mutation_p.R329Q|DCAF6_ENST00000367843.3_Missense_Mutation_p.R329Q|DCAF6_ENST00000432587.2_Missense_Mutation_p.R298Q	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	329					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAGAGTGAACGAGAACGAGAT	0.373000													12	84					0	0	0.000978159	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725997	168725997	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:168725997C>A	ENST00000305861.1	+	2	799	c.448C>A	c.(448-450)Cat>Aat	p.H150N	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.H150N|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	150					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGACTCCTACCATAACCTTAC	0.428000													9	51					0.000274275	0.00166361	0.000274275	1	0
IP6K3	117283	broad.mit.edu	37	6	33703227	33703227	+	Silent	SNP	G	G	A	rs150212654		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:33703227G>A	ENST00000451316.1	-	3	562	c.27C>T	c.(25-27)gcC>gcT	p.A9A	IP6K3_ENST00000293756.4_Silent_p.A9A	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	9					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCATGTCCCCGGCGTCTGCGC	0.617000													6	42					0	0	0.00116845	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62917122	62917122	+	Silent	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:62917122G>T	ENST00000253401.6	-	4	1244	c.444C>A	c.(442-444)atC>atA	p.I148I	ARHGEF9_ENST00000374878.1_Silent_p.I146I|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Silent_p.I127I|ARHGEF9_ENST00000437457.2_Silent_p.I95I|ARHGEF9_ENST00000374870.4_Silent_p.I46I	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	148	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGTTCCCAAAGATTACCTTCA	0.468000													9	18					3.86212e-05	0.00023997	0.000673444	1	0
GBF1	8729	broad.mit.edu	37	10	104122290	104122290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:104122290T>C	ENST00000369983.3	+	15	2002	c.1742T>C	c.(1741-1743)cTa>cCa	p.L581P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	581					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTTGATGCCCTATTGACAGTG	0.488000													3	148					0	0	6.4e-05	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530510	80530510	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:80530510C>T	ENST00000295057.3	-	2	1091	c.435G>A	c.(433-435)tcG>tcA	p.S145S	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S145S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	145						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCTTGTTGTACGAGAGGTCCA	0.632000										HNSCC(69;0.2)			13	90					0	0	0.000422831	0	0
TCHH	7062	broad.mit.edu	37	1	152081918	152081918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:152081918G>A	ENST00000368804.1	-	2	3774	c.3775C>T	c.(3775-3777)Cgc>Tgc	p.R1259C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1259					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCGCGCAGCTGGGAA	0.537000													29	93					0	0	0.000878237	0	0
LYSMD3	116068	broad.mit.edu	37	5	89821073	89821073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:89821073G>A	ENST00000315948.6	-	2	178	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	LYSMD3_ENST00000500869.2_Missense_Mutation_p.L12F|LYSMD3_ENST00000509384.1_Missense_Mutation_p.L12F	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	12					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ACTCCTGGAAGAGGAAAACTA	0.403000													4	48					0	0	0.00024832	0	0
TLR8	51311	broad.mit.edu	37	X	12937993	12937993	+	Silent	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:12937993A>T	ENST00000218032.6	+	2	921	c.834A>T	c.(832-834)atA>atT	p.I278I	TLR8_ENST00000311912.5_Silent_p.I296I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	278					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAATTAATATAGATCGTTTTG	0.408000													12	47					0	0	0.00136819	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94750101	94750101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:94750101G>A	ENST00000289495.5	+	3	1822	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V536I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V536I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	536	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGGAATATTCGTCAAGACAGT	0.393000										HNSCC(28;0.073)			35	98					0	0	0.000491102	0	0
KATNA1	11104	broad.mit.edu	37	6	149944272	149944272	+	Silent	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:149944272T>C	ENST00000367411.2	-	4	726	c.468A>G	c.(466-468)gaA>gaG	p.E156E	KATNA1_ENST00000335647.5_Silent_p.E156E|KATNA1_ENST00000335643.8_Silent_p.E156E	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	156	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GTTCTTTCTTTTCACGACAAC	0.343000													8	55					0	0	0.000274275	0	0
RELN	5649	broad.mit.edu	37	7	103270583	103270583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:103270583C>A	ENST00000424685.2	-	20	2665	c.2506G>T	c.(2506-2508)Gga>Tga	p.G836*	RELN_ENST00000343529.5_Nonsense_Mutation_p.G836*|RELN_ENST00000428762.1_Nonsense_Mutation_p.G836*			P78509	RELN_HUMAN	reelin	836					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAATTCCAAACTGCTTT	0.343000													7	72					0.000157383	0.000966106	0.000157383	1	0
SLC12A9	56996	broad.mit.edu	37	7	100463759	100463759	+	Silent	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:100463759C>A	ENST00000354161.3	+	14	2402	c.2277C>A	c.(2275-2277)ccC>ccA	p.P759P		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	759						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATGGTGCCCGCTTGGCATA	0.706000													5	120					0.00116845	0.00696284	0.00116845	1	0
METTL24	728464	broad.mit.edu	37	6	110636640	110636640	+	Silent	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:110636640A>G	ENST00000338882.4	-	3	461	c.462T>C	c.(460-462)tcT>tcC	p.S154S		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	154						extracellular region											GTGTAGGACTAGAGTCAGTAG	0.433000													13	85					0	0	0.00136819	0	0
ASTN1	460	broad.mit.edu	37	1	177000057	177000057	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:177000057G>T	ENST00000367654.2	-	4	910	c.897C>A	c.(895-897)aaC>aaA	p.N299K	ASTN1_ENST00000424564.2_Missense_Mutation_p.N299K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.N299K|ASTN1_ENST00000367657.3_Missense_Mutation_p.N299K			O14525	ASTN1_HUMAN	astrotactin 1	299					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTTATACTTGTTCATCAGTG	0.443000													9	67					7.48243e-07	4.82569e-06	0.000442599	1	0
C4orf17	84103	broad.mit.edu	37	4	100451030	100451030	+	Missense_Mutation	SNP	C	C	T	rs145411536	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:100451030C>T	ENST00000514652.1	+	5	815	c.461C>T	c.(460-462)tCc>tTc	p.S154F	C4orf17_ENST00000326581.4_Missense_Mutation_p.S154F|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACTCCTGGCTCCTGTTCTTCA	0.378000													15	41					0	0	0.00074312	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458636	90458636	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:90458636A>G	ENST00000603238.1	+	2	312	c.312A>G	c.(310-312)gcA>gcG	p.104_104insA																								AAGATTTTGCAACTTATTACT	0.512000													30	873					0	0	0.001512	0	0
EIF5B	9669	broad.mit.edu	37	2	99980764	99980764	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:99980764A>C	ENST00000289371.5	+	6	1370	c.1168A>C	c.(1168-1170)Aaa>Caa	p.K390Q		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	390					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						aagagaaaggaaaaagcaaaa	0.328000													11	104					0	0	0.000673444	0	0
TRANK1	9881	broad.mit.edu	37	3	36897578	36897578	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:36897578A>G	ENST00000301807.6	-	12	3750	c.1853T>C	c.(1852-1854)cTt>cCt	p.L618P	TRANK1_ENST00000428977.2_Missense_Mutation_p.L618P|TRANK1_ENST00000429976.2_Missense_Mutation_p.L1168P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1168					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACTTGGAAAGCTCAATGAA	0.483000													37	115					0	0	0.00170553	0	0
EGFR	1956	broad.mit.edu	37	7	55242489	55242489	+	Silent	SNP	G	G	A	rs121913463		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:55242489G>A	ENST00000275493.2	+	19	2436	c.2259G>A	c.(2257-2259)ccG>ccA	p.P753P	EGFR_ENST00000455089.1_Silent_p.P708P|EGFR_ENST00000454757.2_Silent_p.P700P|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACATCTCCGAAAGCCAACA	0.493000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	70					0	0	0.000274275	0	0
DENND1A	57706	broad.mit.edu	37	9	126414316	126414316	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:126414316G>A	ENST00000373624.2	-	9	795	c.594C>T	c.(592-594)ctC>ctT	p.L198L	DENND1A_ENST00000373618.1_Silent_p.L166L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.L198L|DENND1A_ENST00000394219.3_Silent_p.L166L|DENND1A_ENST00000394215.2_Silent_p.L168L|DENND1A_ENST00000542603.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	198	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCAAATGATGAGTATCCGGC	0.388000													9	35					0	0	0.000442599	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570690	47570690	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:47570690G>A	ENST00000253048.5	-	15	2872	c.2835C>T	c.(2833-2835)ccC>ccT	p.P945P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	945							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GAGGGTGCCCGGGGAGTGGGT	0.677000													37	185					0	0	0.00128727	0	0
PTPRT	11122	broad.mit.edu	37	20	40710552	40710552	+	Silent	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:40710552A>G	ENST00000373198.3	-	31	4543	c.4308T>C	c.(4306-4308)cgT>cgC	p.R1436R	PTPRT_ENST00000356100.2_Silent_p.R1423R|PTPRT_ENST00000373187.1_Silent_p.R1414R|PTPRT_ENST00000373184.1_Silent_p.R1424R|PTPRT_ENST00000373190.1_Silent_p.R1413R|PTPRT_ENST00000373193.3_Silent_p.R1417R|PTPRT_ENST00000373201.1_Silent_p.R1404R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTTGTTGTTACGCAGTGTTT	0.502000													27	103					0	0	0.00106085	0	0
RNF19A	25897	broad.mit.edu	37	8	101273978	101273978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:101273978T>C	ENST00000519449.1	-	9	1790	c.1474A>G	c.(1474-1476)Aca>Gca	p.T492A	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.T492A	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	492					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCTACTGATGTTGTGTCTAAA	0.403000													110	72					0	0	0.000781405	0	0
ARSF	416	broad.mit.edu	37	X	3030221	3030221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:3030221C>T	ENST00000381127.1	+	11	1618	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ARSF_ENST00000359361.2_Missense_Mutation_p.S466L|ARSF_ENST00000537104.1_Missense_Mutation_p.S466L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	466						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				ccAGGTGGGTCAGTTTGGAAG	0.517000													25	28					0	0	0.000375601	0	0
KCNA1	3736	broad.mit.edu	37	12	5020755	5020755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:5020755C>T	ENST00000382545.3	+	2	1318	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	71					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.R71C(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAACGCATGCGCTACTTCGA	0.632000													27	105					0	0	0.000878237	0	0
USP5	8078	broad.mit.edu	37	12	6970649	6970649	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:6970649A>G	ENST00000229268.8	+	13	1593	c.1541A>G	c.(1540-1542)gAg>gGg	p.E514G	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.E514G	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	514					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAAGCCGAAGAGGAGAAGATG	0.597000													20	94					0	0	0.00152264	0	0
TTC18	118491	broad.mit.edu	37	10	75104930	75104930	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:75104930G>T	ENST00000401621.2	-	6	622	c.502C>A	c.(502-504)Cta>Ata	p.L168I	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.L168I|TTC18_ENST00000394865.1_Missense_Mutation_p.L168I|TTC18_ENST00000340329.3_Missense_Mutation_p.L168I|TTC18_ENST00000355577.3_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	168							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCTTCAGTAGATTGCCCCCT	0.468000													32	123					5.91797e-21	3.96737e-20	0.000409698	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12854334	12854334	+	Silent	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:12854334C>G	ENST00000332296.7	+	3	661	c.558C>G	c.(556-558)gtC>gtG	p.V186V		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	186										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAAGCTGGTCAATTATCTAA	0.423000													10	635					0	0	0.000692331	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793324	8793324	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr17:8793324C>T	ENST00000447110.1	-	8	901	c.777G>A	c.(775-777)gcG>gcA	p.A259A	PIK3R5_ENST00000581552.1_Silent_p.A259A|PIK3R5_ENST00000584803.1_Silent_p.A259A	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	259				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTTCTCCCACCGCCTGCAGCT	0.607000													20	46					0	0	0.000295444	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263296	140263296	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662000													34	137					0	0	0.00058488	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603427	13603427	+	Silent	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:13603427T>C	ENST00000040738.5	-	10	5232	c.5097A>G	c.(5095-5097)gcA>gcG	p.A1699A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1699							DNA binding										TTATAGATCCTGCTCTTATCT	0.418000													38	388					0	0	0.000437636	0	0
PCNX	22990	broad.mit.edu	37	14	71444809	71444809	+	Silent	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:71444809T>A	ENST00000304743.2	+	6	2201	c.1755T>A	c.(1753-1755)ggT>ggA	p.G585G	PCNX_ENST00000439984.3_Silent_p.G585G|PCNX_ENST00000238570.5_Silent_p.G585G	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	585						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTTTCGAGGTGTTTCTGGTA	0.483000													15	99					0	0	0.000219431	0	0
MYO9B	4650	broad.mit.edu	37	19	17322582	17322582	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:17322582A>T	ENST00000595618.1	+	39	6209	c.6057A>T	c.(6055-6057)gaA>gaT	p.E2019D	MYO9B_ENST00000594824.1_Splice_Site_p.E2019_splice|MYO9B_ENST00000397274.2_Missense_Mutation_p.E2019D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2019	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGCCTCGGAAGGTCAGTATT	0.677000													11	50					0	0	0.000219431	0	0
USP15	9958	broad.mit.edu	37	12	62749159	62749159	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:62749159A>G	ENST00000280377.5	+	8	876	c.818A>G	c.(817-819)aAc>aGc	p.N273S	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.N248S|USP15_ENST00000353364.3_Missense_Mutation_p.N244S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	273					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTTATAAGAACTATGATTAT	0.348000													7	31					0	0	0.000157383	0	0
OR52E2	119678	broad.mit.edu	37	11	5080740	5080740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:5080740C>T	ENST00000321522.2	-	1	117	c.118G>A	c.(118-120)Gca>Aca	p.A40T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTATGAGTGCGATCATGTAC	0.512000													13	52					0	0	0.00185496	0	0
SPATA13	221178	broad.mit.edu	37	13	24823649	24823649	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr13:24823649C>T	ENST00000424834.2	+	5	2161	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	SPATA13_ENST00000382095.4_5'UTR|SPATA13_ENST00000382108.3_Missense_Mutation_p.S563L			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	221	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CGAAGCTCATCACAGGATGAG	0.552000													8	8					0	0	0.000157383	0	0
PRKDC	5591	broad.mit.edu	37	8	48794645	48794645	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:48794645A>G	ENST00000314191.2	-	38	4843	c.4787T>C	c.(4786-4788)tTg>tCg	p.L1596S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1596S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1597					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATGCCGTTCAAAACGGCACT	0.393000								Non-homologous end-joining					56	110					0	0	0.000781405	0	0
GAS8	2622	broad.mit.edu	37	16	90103725	90103725	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:90103725A>C	ENST00000268699.4	+	7	964	c.842A>C	c.(841-843)gAc>gCc	p.D281A	GAS8_ENST00000536122.1_Missense_Mutation_p.D256A|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	281					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CGCCTGGCAGACCCTCTCCAG	0.582000													14	31					0	0	0.00185496	0	0
HMCES	56941	broad.mit.edu	37	3	129009622	129009622	+	Missense_Mutation	SNP	A	A	G	rs142370950		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:129009622A>G	ENST00000383463.4	+	4	517	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	C3orf37_ENST00000417226.2_Intron|C3orf37_ENST00000502878.2_Missense_Mutation_p.Y143C|C3orf37_ENST00000389735.3_Missense_Mutation_p.Y143C	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		143										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						TACTTCATCTATTTTCCTCAA	0.413000													11	73					0	0	0.000978159	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134379	21134379	+	Nonsense_Mutation	SNP	C	C	G	rs76882693		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134379C>G	ENST00000215727.5	+	2	1062	c.779C>G	c.(778-780)tCa>tGa	p.S260*	SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.S260*|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	260					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GCCTTCATATCAAAAACCAAC	0.438000													591	803					0	0	0.000781405	0	0
PJA2	9867	broad.mit.edu	37	5	108714181	108714181	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:108714181T>C	ENST00000361189.2	-	4	1246	c.1007A>G	c.(1006-1008)cAt>cGt	p.H336R	PJA2_ENST00000361557.3_Missense_Mutation_p.H336R	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	336					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTTCGCCTCATGCCTATTAAA	0.408000													49	208					0	0	0.000781405	0	0
CALN1	83698	broad.mit.edu	37	7	71252883	71252883	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:71252883A>C	ENST00000395275.2	-	7	1051	c.663T>G	c.(661-663)caT>caG	p.H221Q	CALN1_ENST00000412588.1_Missense_Mutation_p.H221Q|CALN1_ENST00000431984.1_Missense_Mutation_p.H179Q|CALN1_ENST00000405452.2_Missense_Mutation_p.H179Q|CALN1_ENST00000329008.5_Missense_Mutation_p.H179Q|CALN1_ENST00000395276.2_Missense_Mutation_p.H179Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	179						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTTCTGGGAATGCACTGGTG	0.512000													20	42					0	0	0.00152264	0	0
BOC	91653	broad.mit.edu	37	3	112991529	112991529	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:112991529C>G	ENST00000495514.1	+	7	1644	c.940C>G	c.(940-942)Ctc>Gtc	p.L314V	BOC_ENST00000355385.3_Missense_Mutation_p.L314V|BOC_ENST00000273395.4_Missense_Mutation_p.L314V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	314	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCGGTCATCCTCTACAATGT	0.582000													7	41					0	0	8.12818e-05	0	0
FUBP3	8939	broad.mit.edu	37	9	133506175	133506175	+	Splice_Site	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:133506175C>T	ENST00000319725.9	+	13	1353	c.1278_splice	c.e13+1	p.G426_splice		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	426					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGAAAGTTGGCGTACGTACAG	0.567000													6	19					0	0	8.12818e-05	0	0
XRCC6	2547	broad.mit.edu	37	22	42032124	42032124	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:42032124A>G	ENST00000359308.4	+	3	858	c.203A>G	c.(202-204)cAa>cGa	p.Q68R	XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000360079.3_Missense_Mutation_p.Q68R|XRCC6_ENST00000402580.3_Intron|XRCC6_ENST00000405506.1_Missense_Mutation_p.Q18R|XRCC6_ENST00000405878.1_Missense_Mutation_p.Q68R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	68					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTGTATCCAAAGTGTGTAC	0.338000								Non-homologous end-joining					7	34					0	0	0.000157383	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88207485	88207485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:88207485G>A	ENST00000357081.3	-	19	2702	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S865L|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S813L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	853					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTAAAGTTGAATACGTATA	0.274000													15	63					0	0	0.000219431	0	0
CDH10	1008	broad.mit.edu	37	5	24505329	24505329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:24505329C>T	ENST00000264463.4	-	8	1792	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	429	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGATTCTGTCAAGGTCAGTA	0.368000										HNSCC(23;0.051)			4	44					0	0	0.00116845	0	0
LTBP4	8425	broad.mit.edu	37	19	41129882	41129882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:41129882G>A	ENST00000308370.7	+	30	3925	c.3925G>A	c.(3925-3927)Ggc>Agc	p.G1309S	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.G1242S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.G1272S|LTBP4_ENST00000545697.1_Missense_Mutation_p.G677S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1310	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGAGGGCGGCCGCTGTGT	0.602000													9	32					0	0	0.000673444	0	0
GABRA1	2554	broad.mit.edu	37	5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:161324318C>T	ENST00000428797.2	+	11	1616	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_ENST00000437025.2_Nonsense_Mutation_p.R421*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.R421*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.R421*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.R421*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	421					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAAATTGACCGACTGTCAAG	0.443000													48	172					0	0	0.000680045	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397509	75397509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:75397509C>T	ENST00000359322.4	-	3	609	c.245G>A	c.(244-246)aGc>aAc	p.S82N		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	82					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CACCATTGAGCTGTCAGAGAA	0.483000													25	108					0	0	0.000586117	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777772	56777772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:56777772G>A	ENST00000423391.1	-	1	864	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	255						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATCGGAAGCGTTCATTCCCA	0.532000													9	51					0	0	0.000274275	0	0
MYEF2	50804	broad.mit.edu	37	15	48446066	48446066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr15:48446066C>A	ENST00000324324.7	-	10	1289	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	MYEF2_ENST00000267836.6_Missense_Mutation_p.G337V	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	337	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGGACCAAGTCCCATCCCAAT	0.388000													8	23					0.000274275	0.00166361	0.000274275	1	0
MAATS1	89876	broad.mit.edu	37	3	119459395	119459395	+	Splice_Site	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:119459395G>T	ENST00000273390.5	+	13	1610		c.e13-1			NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		ATTTGATACAGATGTTTGAAG	0.468000													11	75					9.31168e-06	5.85716e-05	0.00185496	1	0
BTBD7	55727	broad.mit.edu	37	14	93723663	93723663	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:93723663T>G	ENST00000334746.5	-	6	1793	c.1486A>C	c.(1486-1488)Aaa>Caa	p.K496Q	BTBD7_ENST00000393170.2_Missense_Mutation_p.K70Q|BTBD7_ENST00000554565.1_Missense_Mutation_p.K145Q	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	496										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACACCTCTTTTGTTCACACTA	0.408000													8	83					0	0	0.000157383	0	0
DCAF4	26094	broad.mit.edu	37	14	73422322	73422322	+	Missense_Mutation	SNP	G	G	A	rs141315052	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:73422322G>A	ENST00000553457.1	+	11	1087	c.797G>A	c.(796-798)cGc>cAc	p.R266H	DCAF4_ENST00000509153.1_Missense_Mutation_p.R306H|DCAF4_ENST00000555042.1_Missense_Mutation_p.R360H|DCAF4_ENST00000394234.2_Missense_Mutation_p.R266H|DCAF4_ENST00000353777.3_Missense_Mutation_p.R196H|DCAF4_ENST00000358377.2_Missense_Mutation_p.R366H			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	366			N -> S (in dbSNP:rs7155812).			CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AAGGCCACCCGCCTGTTTCAT	0.517000													42	238					0	0	0.000589545	0	0
DUSP27	92235	broad.mit.edu	37	1	167088617	167088617	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:167088617A>G	ENST00000361200.2	+	5	735	c.569A>G	c.(568-570)gAg>gGg	p.E190G	DUSP27_ENST00000271385.5_Missense_Mutation_p.E190G|DUSP27_ENST00000443333.1_Missense_Mutation_p.E190G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	190					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTGGGTGTAGAGGTGGATGAC	0.557000													15	47					0	0	0.000219431	0	0
ERMARD	55780	broad.mit.edu	37	6	170176742	170176742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:170176742G>T	ENST00000588451.1	+	15	1817	c.1304G>T	c.(1303-1305)cGg>cTg	p.R435L	C6orf70_ENST00000392095.4_Missense_Mutation_p.R445L|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R571L			Q5T6L9	CF070_HUMAN		571						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TCTCGCCAGCGGCAGAACTAC	0.597000													11	47					2.80697e-09	1.82185e-08	0.000978159	1	0
SERPIND1	3053	broad.mit.edu	37	22	21134279	21134279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134279C>T	ENST00000215727.5	+	2	962	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.Q227*|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	227					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTTTATATCCAGAAGCAGTT	0.438000													135	319					0	0	0.000781405	0	0
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378000													3	132					0	0	0.00024832	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134259	21134259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134259C>T	ENST00000215727.5	+	2	942	c.659C>T	c.(658-660)tCa>tTa	p.S220L	SERPIND1_ENST00000406799.1_Missense_Mutation_p.S220L|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	220					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACACTGCGGTCAGTCAATGAC	0.433000													90	321					0	0	0.000781405	0	0
IDUA	3425	broad.mit.edu	37	4	996204	996204	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:996204A>C	ENST00000453894.1	+	5	1274	c.1186A>C	c.(1186-1188)Acc>Ccc	p.T396P	IDUA_ENST00000247933.4_Missense_Mutation_p.T374P|IDUA_ENST00000514224.1_Missense_Mutation_p.T242P			P35475	IDUA_HUMAN	iduronidase, alpha-L-	374			L -> LALL (in MPS1H).		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GGTCAACAACACCCGCCCGCC	0.711000													4	5					0	0	0.000274275	0	0
RELN	5649	broad.mit.edu	37	7	103183184	103183184	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:103183184T>C	ENST00000424685.2	-	43	6824	c.6665A>G	c.(6664-6666)cAt>cGt	p.H2222R	RELN_ENST00000343529.5_Missense_Mutation_p.H2222R|RELN_ENST00000428762.1_Missense_Mutation_p.H2222R			P78509	RELN_HUMAN	reelin	2222					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTACCTAGCATGTGATAAATC	0.378000													8	58					0	0	0.000157383	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431506	56431506	+	Silent	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:56431506G>C	ENST00000302969.2	+	1	369	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTATGTCCTGGCAGCCATGG	0.498000													31	213					0	0	0.000409698	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134479	21134479	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134479C>T	ENST00000215727.5	+	2	1162	c.879C>T	c.(877-879)atC>atT	p.I293I	SERPIND1_ENST00000406799.1_Silent_p.I293I|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	293					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TCAACTGCATCTACTTCAAAG	0.423000													567	825					0	0	0.000781405	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134359	21134359	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134359C>T	ENST00000215727.5	+	2	1042	c.759C>T	c.(757-759)ttC>ttT	p.F253F	SERPIND1_ENST00000406799.1_Silent_p.F253F|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	253					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TAGCTGACTTCTCAGACCCTG	0.433000													482	692					0	0	0.000781405	0	0
PIGK	10026	broad.mit.edu	37	1	77558068	77558068	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:77558068G>A	ENST00000370812.3	-	11	1202	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	PIGK_ENST00000370813.5_Silent_p.F317F|PIGK_ENST00000445065.1_Silent_p.F299F	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	393					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TCTAAAAAATGAACTTCATAT	0.328000													9	51					0	0	0.000673444	0	0
DZANK1	55184	broad.mit.edu	37	20	18371073	18371073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:18371073C>T	ENST00000357236.4	-	19	2157	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	DZANK1_ENST00000377630.5_Missense_Mutation_p.G447R|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.G614R|DZANK1_ENST00000329494.5_Missense_Mutation_p.G592R			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	441						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCCGTGGGTCCGACTTCCTTC	0.488000													16	130					0	0	0.000566183	0	0
KCNN2	3781	broad.mit.edu	37	5	113740539	113740539	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:113740539C>T	ENST00000512097.3	+	4	2005	c.987C>T	c.(985-987)gtC>gtT	p.V329V	KCNN2_ENST00000264773.3_Silent_p.V329V|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	329						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CATGGACTGTCCGAGCTTGTG	0.348000													26	174					0	0	0.00047179	0	0
OR8J1	219477	broad.mit.edu	37	11	56128260	56128260	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:56128260G>C	ENST00000303039.3	+	1	570	c.538G>C	c.(538-540)Gat>Cat	p.D180H		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTTTACTGTGATAATGTTCC	0.343000													21	62					0	0	0.00188189	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878016	76878016	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:76878016C>G	ENST00000328299.3	+	3	685	c.537C>G	c.(535-537)atC>atG	p.I179M	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	179					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CAGTTGGTATCTATCCGAATG	0.423000													8	61					0	0	0.000157383	0	0
CFHR4	10877	broad.mit.edu	37	1	196882040	196882040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:196882040C>A	ENST00000367416.2	+	7	1302	c.1165C>A	c.(1165-1167)Cca>Aca	p.P389T	CFHR4_ENST00000367418.1_Missense_Mutation_p.P143T|CFHR4_ENST00000251424.4_Missense_Mutation_p.P143T|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTCAGCACAACCAATTTGCAT	0.313000													42	75					5.85753e-14	3.87586e-13	0.000781405	1	0
MRPS30	10884	broad.mit.edu	37	5	44809264	44809264	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:44809264A>T	ENST00000507110.1	+	1	238	c.200A>T	c.(199-201)cAg>cTg	p.Q67L		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	67					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAGCGCTGGCAGGCGACGGTG	0.637000													12	34					0	0	0.000978159	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664276	50664276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:50664276C>T	ENST00000439308.2	-	10	2422	c.1930G>A	c.(1930-1932)Gtt>Att	p.V644I	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V644I	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	644					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGCGCCCAACGTAGACGGCA	0.607000													5	36					0	0	0.000602214	0	0
CALU	813	broad.mit.edu	37	7	128394382	128394382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:128394382G>C	ENST00000535623.1	+	4	1255	c.312G>C	c.(310-312)tgG>tgC	p.W104C	CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.W96C|CALU_ENST00000479257.1_Missense_Mutation_p.W104C|CALU_ENST00000542996.2_Intron|CALU_ENST00000449187.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.W96C	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	96	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TCAAAGACTGGATTAAATTTG	0.453000													12	43					0	0	0.00136819	0	0
LAT	27040	broad.mit.edu	37	16	28997738	28997738	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:28997738C>T	ENST00000395456.2	+	5	603	c.281C>T	c.(280-282)aCg>aTg	p.T94M	LAT_ENST00000454369.2_Missense_Mutation_p.T93M|LAT_ENST00000395461.3_Missense_Mutation_p.T130M|LAT_ENST00000360872.5_Missense_Mutation_p.T94M|LAT_ENST00000354453.4_Intron|LAT_ENST00000566177.1_Missense_Mutation_p.T93M|LAT_ENST00000564277.1_Missense_Mutation_p.T93M|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000563964.1_3'UTR	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	94					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TCCCACCGGACGCCATCTTCC	0.627000													22	89					0	0	0.00188189	0	0
ZNF677	342926	broad.mit.edu	37	19	53740463	53740463	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:53740463T>G	ENST00000333952.4	-	5	1682	c.1517A>C	c.(1516-1518)aAg>aCg	p.K506T	ZNF677_ENST00000598513.1_Missense_Mutation_p.K506T			Q86XU0	ZN677_HUMAN	zinc finger protein 677	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATGGATTTTCTTATGCTGAGT	0.388000													5	74					0	0	0.00116845	0	0
FAM47C	442444	broad.mit.edu	37	X	37026544	37026544	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:37026544T>C	ENST00000358047.3	+	1	113	c.61T>C	c.(61-63)Tac>Cac	p.Y21H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	21										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CACGCCCTGGTACTGTGACAA	0.657000													12	13					0	0	0.00136819	0	0
RFC1	5981	broad.mit.edu	37	4	39308288	39308288	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:39308288C>A	ENST00000381897.1	-	14	2055	c.1922G>T	c.(1921-1923)gGc>gTc	p.G641V	RFC1_ENST00000349703.2_Missense_Mutation_p.G640V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	641				G -> N (in Ref. 2, 3 and 4).	DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.G641>?(1)|p.G641V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAACTAGAGCCATCATCTTT	0.473000													5	47					3.59834e-05	0.000224951	0.00116845	1	0
ANK2	287	broad.mit.edu	37	4	114257135	114257135	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:114257135G>A	ENST00000357077.4	+	30	3566	c.3513G>A	c.(3511-3513)ctG>ctA	p.L1171L	ANK2_ENST00000394537.3_Silent_p.L1171L|ANK2_ENST00000509550.1_Silent_p.L347L|ANK2_ENST00000506722.1_Silent_p.L1162L|ANK2_ENST00000264366.6_Silent_p.L1138L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1138					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGTGTACTGAGCAGCACAG	0.567000													11	90					0	0	0.00136819	0	0
CNNM1	26507	broad.mit.edu	37	10	101120712	101120712	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:101120712C>T	ENST00000356713.4	+	3	2127	c.1838C>T	c.(1837-1839)aCa>aTa	p.T613I	CNNM1_ENST00000370528.3_Missense_Mutation_p.T542I|CNNM1_ENST00000370534.4_Missense_Mutation_p.T248I|CNNM1_ENST00000446890.1_Missense_Mutation_p.T542I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	613					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTGCTAGCCACACACCGCTTC	0.537000													16	57					0	0	0.000308642	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476615	110476615	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:110476615A>G	ENST00000378402.5	+	49	7658	c.7554A>G	c.(7552-7554)atA>atG	p.I2518M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2518					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAATATTATATATGATATTA	0.363000										HNSCC(38;0.096)			23	27					0	0	0.000295444	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263844	140263844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:140263844C>T	ENST00000289272.2	+	1	1991	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T664M|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGCAACGGTGCTGTTG	0.687000													26	111					0	0	0.000586117	0	0
EPYC	1833	broad.mit.edu	37	12	91366624	91366624	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:91366624G>C	ENST00000261172.3	-	4	566	c.474C>G	c.(472-474)atC>atG	p.I158M		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	158					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CATTTTTGTTGATCTTTTTAA	0.388000													6	110					0	0	0.00116845	0	0
HTR1A	3350	broad.mit.edu	37	5	63256301	63256301	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:63256301T>C	ENST00000323865.3	-	1	1479	c.1246A>G	c.(1246-1248)Aag>Gag	p.K416E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	416					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AACTTACACTTAATGATCTTC	0.498000													31	247					0	0	0.000339439	0	0
MFI2	4241	broad.mit.edu	37	3	196753556	196753556	+	Silent	SNP	C	C	T	rs138189044		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:196753556C>T	ENST00000296350.5	-	3	392	c.279G>A	c.(277-279)ccG>ccA	p.P93P	MFI2_ENST00000296351.4_Silent_p.P93P	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	93	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCCCACCACCGGCTTCAGGC	0.617000													9	124					0	0	0.000442599	0	0
EPHA3	2042	broad.mit.edu	37	3	89521703	89521703	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:89521703A>T	ENST00000336596.2	+	16	3005	c.2780A>T	c.(2779-2781)cAc>cTc	p.H927L	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	927	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGACAGCACACTGCAAGGAA	0.428000										TSP Lung(6;0.00050)			16	149					0	0	0.000422831	0	0
EBF1	1879	broad.mit.edu	37	5	158140094	158140094	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:158140094T>A	ENST00000313708.6	-	13	1535	c.1253A>T	c.(1252-1254)cAc>cTc	p.H418L	EBF1_ENST00000517373.1_Missense_Mutation_p.H410L|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.H387L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	418					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTTGGTTGTGGTTGCGGGG	0.562000			T	HMGA2	lipoma								24	45					0	0	0.000720815	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950011	235950011	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:235950011T>A	ENST00000409212.1	+	4	1105	c.598T>A	c.(598-600)Tcc>Acc	p.S200T	SH3BP4_ENST00000344528.4_Missense_Mutation_p.S200T|SH3BP4_ENST00000392011.2_Missense_Mutation_p.S200T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	200					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGCAGGTACATCCTCCTTCAC	0.537000													31	88					0	0	0.001512	0	0
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	C	rs142081193	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:84229512G>C	ENST00000268624.3	+	8	1483	c.1390G>C	c.(1390-1392)Gtg>Ctg	p.V464L	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382L|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716000													5	32					0	0	0.000602214	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775457	98775457	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:98775457A>G	ENST00000407474.3	+	4	2081	c.1568A>G	c.(1567-1569)aAc>aGc	p.N523S				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ACAGATGAAAACGCAACCAAT	0.398000													31	75					0	0	0.000339439	0	0
GPR20	2843	broad.mit.edu	37	8	142367504	142367504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:142367504C>T	ENST00000377741.3	-	2	610	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	174						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCAGCCACACGAAGGCGCAC	0.711000													8	8					0	0	0.000673444	0	0
MST1	4485	broad.mit.edu	37	3	49721591	49721591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:49721591G>A	ENST00000449682.2	-	18	2409	c.2048C>T	c.(2047-2049)aCc>aTc	p.T683I		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	669	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGTTGTGGGTAAAGCAGGC	0.562000													8	36					0	0	0.000157383	0	0
REV3L	5980	broad.mit.edu	37	6	111697876	111697876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:111697876T>C	ENST00000435970.1	-	15	2264	c.1448A>G	c.(1447-1449)cAc>cGc	p.H483R	REV3L_ENST00000368802.3_Missense_Mutation_p.H561R|REV3L_ENST00000358835.3_Missense_Mutation_p.H561R|REV3L_ENST00000368805.1_Missense_Mutation_p.H561R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	561					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCATCTTTGTGAAAGATGGA	0.393000								DNA polymerases (catalytic subunits)					8	110					0	0	0.000673444	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308409	35308409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:35308409G>A	ENST00000278379.3	-	8	1463	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	SLC1A2_ENST00000395750.1_Missense_Mutation_p.A385V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A385V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A394V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	394					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTTAATGGTTGCTCCAACAGG	0.468000													24	190					0	0	0.00047179	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213733	108213733	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:108213733G>A	ENST00000249356.3	+	3	1154	c.608G>A	c.(607-609)tGc>tAc	p.C203Y	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	203					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						AGCAAGCACTGCAGGACTGTC	0.373000													18	60					0	0	0.000295444	0	0
TTN	7273	broad.mit.edu	37	2	179620992	179620992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:179620992G>C	ENST00000589042.1	-	46	11435	c.11211C>G	c.(11209-11211)gaC>gaG	p.D3737E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3566E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3421							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTCCACAGTCATTGTGTA	0.388000													32	111					0	0	0.000692331	0	0
LRRC15	131578	broad.mit.edu	37	3	194080176	194080176	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:194080176T>C	ENST00000347624.3	-	2	1682	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A	LRRC15_ENST00000428839.1_Missense_Mutation_p.T539A|LRRC15_ENST00000439944.2_Missense_Mutation_p.T539A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	533						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGGCCTGGGTCATGCCCCAA	0.587000													5	113					0	0	8.12818e-05	0	0
TRPV4	59341	broad.mit.edu	37	12	110246181	110246181	+	Missense_Mutation	SNP	C	C	T	rs139300843		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:110246181C>T	ENST00000418703.2	-	2	573	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	TRPV4_ENST00000544971.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000541794.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000537083.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000536838.1_Missense_Mutation_p.R126Q|TRPV4_ENST00000392719.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000346520.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000261740.2_Missense_Mutation_p.R160Q	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	160					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGTGGAGCCCCGGGACACGAT	0.612000													13	36					0	0	0.00185496	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142023	133142023	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:133142023A>C	ENST00000388996.4	-	15	2525	c.2105T>G	c.(2104-2106)gTg>gGg	p.V702G	KCNQ3_ENST00000521134.1_Missense_Mutation_p.V582G|KCNQ3_ENST00000519445.1_Missense_Mutation_p.V690G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCAATGGTCACCTGGTGGAA	0.532000													8	148					0	0	0.000157383	0	0
DOPEY1	23033	broad.mit.edu	37	6	83835435	83835435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:83835435G>A	ENST00000349129.2	+	15	1962	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E549K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E559K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	568					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCAGTCAAAGAGTGGGAAGA	0.368000													9	58					0	0	0.000274275	0	0
RBM27	54439	broad.mit.edu	37	5	145609363	145609363	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:145609363A>G	ENST00000265271.5	+	5	645	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	RBM27_ENST00000506502.1_Missense_Mutation_p.Y160C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	160	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGAGAAGTATGACTGGAGA	0.478000													71	104					0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141260621	141260621	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:141260621A>G	ENST00000389484.3	-	54	9544	c.8573T>C	c.(8572-8574)cTt>cCt	p.L2858P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19.				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)		AGTATTTAGAAGACACCGCCC	0.388000										TSP Lung(27;0.18)			19	71					0	0	0.00152264	0	0
ZMYND12	84217	broad.mit.edu	37	1	42905661	42905664	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:42905661_42905664delATAG	ENST00000372565.3	-	4	726_729	c.457_460delCTAT	c.(457-462)tcfs	p.LF153fs	ZMYND12_ENST00000433602.2_Frame_Shift_Del_p.LF43fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	153						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCTTGGAATAGATATTCTTCA	0.426													31	127	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175053061	175053072	+	Splice_Site	DEL	TGACATCACTGG	TGACATCACTGG	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:175053061_175053072delTGACATCACTGG	ENST00000239462.4	+	5	1337_1347	c.1234_splice	c.e5+1	p.*408_splice		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	408	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGCCGATATGACATCACTGGTAAGAGCCAT	0.542													7	60	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219895483	219895485	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:219895483_219895485delCTT	ENST00000341552.5	-	9	1170_1172	c.1087_1089delAAG	c.(1087-1089)del	p.K363del	CCDC108_ENST00000453220.1_In_Frame_Del_p.K363del|CCDC108_ENST00000410037.1_In_Frame_Del_p.K298del|CCDC108_ENST00000441968.1_In_Frame_Del_p.K363del|CCDC108_ENST00000409865.3_In_Frame_Del_p.K352del	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	363						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTACAACAGCTTCTGGAAGCCC	0.640													12	59	---	---	---	---					
CMTR1	23070	broad.mit.edu	37	6	37426517	37426527	+	Frame_Shift_Del	DEL	AAGGGCCCTAA	AAGGGCCCTAA	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:37426517_37426527delAAGGGCCCTAA	ENST00000373451.4	+	9	1071_1081	c.907_917delAAGGGCCCTAA	c.(907-918)tfs	p.KGPN303fs		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		303					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AATGACTTTGAAGGGCCCTAATGACTTCAAG	0.512													10	76	---	---	---	---					
TMEM168	64418	broad.mit.edu	37	7	112423785	112423786	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:112423785_112423786insA	ENST00000312814.5	-	2	1655_1656	c.1095_1096insT	c.(1093-1098)ctcaacfs	p.N366fs	TMEM168_ENST00000454074.1_Frame_Shift_Ins_p.N366fs	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	366						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATCGCTGTTGCAAGAAGACTAA	0.411													32	166	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578232	7578232	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr17:7578232delA	ENST00000420246.2	-	6	749	c.617delT	c.(616-618)tgfs	p.L206fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L206fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L206fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	206	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; 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.0?(8)|p.L206*(7)|p.?(5)|p.L206fs*41(4)|p.?fs(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		TCTGTCATCCAAATACTCCAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	35	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aagactfs	p.T895fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.460													7	219	---	---	---	---