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
SERPINB7	8710	broad.mit.edu	37	18	61468114	61468114	+	Silent	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:61468114A>T	ENST00000398019.2	+	7	937	c.612A>T	c.(610-612)gcA>gcT	p.A204A	SERPINB7_ENST00000336429.2_Silent_p.A204A|SERPINB7_ENST00000546027.1_Silent_p.A204A|SERPINB7_ENST00000540675.1_Silent_p.A187A	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	204					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTGGGAAGGCAGTCGCCATGA	0.368000													20	100					0	0	0.654019	0	0
PHTF2	57157	broad.mit.edu	37	7	77572098	77572098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:77572098G>T	ENST00000416283.2	+	14	1978	c.1852G>T	c.(1852-1854)Gcc>Tcc	p.A618S	PHTF2_ENST00000307305.8_Missense_Mutation_p.A614S|PHTF2_ENST00000248550.7_Missense_Mutation_p.A652S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A614S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A618S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TATCTGTTGTGCCCAGGTGAG	0.353000													4	18					1.23904e-05	1.37941e-05	0.184627	1	0
TTC40	54777	broad.mit.edu	37	10	134660807	134660807	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:134660807C>G	ENST00000368586.5	-	42	6071	c.5971G>C	c.(5971-5973)Ggc>Cgc	p.G1991R	TTC40_ENST00000263170.5_Missense_Mutation_p.G152R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	152										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GACTTGAGGCCGCTCAGCTTG	0.672000													61	148					0	0	0.870114	0	0
BCKDK	10295	broad.mit.edu	37	16	31120694	31120694	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:31120694C>T	ENST00000394951.1	+	3	773	c.150C>T	c.(148-150)gtC>gtT	p.V50V	BCKDK_ENST00000394950.3_Silent_p.V50V|BCKDK_ENST00000219794.6_Silent_p.V50V|BCKDK_ENST00000287507.3_Silent_p.V50V			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	50					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCAAGACCGTCACCTCCTTTT	0.697000													14	29					0	0	0.557998	0	0
CDC14A	8556	broad.mit.edu	37	1	100843119	100843119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:100843119G>T	ENST00000370125.2	+	3	646	c.158G>T	c.(157-159)gGa>gTa	p.G53V	CDC14A_ENST00000361544.6_Missense_Mutation_p.G53V|CDC14A_ENST00000544534.1_Missense_Mutation_p.G53V|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000336454.3_Missense_Mutation_p.G53V|CDC14A_ENST00000370124.3_Missense_Mutation_p.G53V			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	53	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAGATTTTGGACCGCTGAAC	0.279000													9	44					0.0135373	0.0139581	0.411799	1	0
AADACL2	344752	broad.mit.edu	37	3	151475176	151475176	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:151475176T>A	ENST00000356517.3	+	5	1109	c.1000T>A	c.(1000-1002)Tat>Aat	p.Y334N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	334						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCCACTAACCTATATTCTTAC	0.373000													65	77					0	0	0.870114	0	0
OBSL1	23363	broad.mit.edu	37	2	220427170	220427170	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:220427170C>A	ENST00000404537.1	-	8	2963	c.2907G>T	c.(2905-2907)ttG>ttT	p.L969F	OBSL1_ENST00000265318.4_Missense_Mutation_p.L969F|OBSL1_ENST00000373876.1_Missense_Mutation_p.L969F|OBSL1_ENST00000289656.3_Missense_Mutation_p.L556F|OBSL1_ENST00000373873.4_Missense_Mutation_p.L969F|OBSL1_ENST00000603926.1_Missense_Mutation_p.L969F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	969	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAATTTCACACAAGTACTCGC	0.652000													23	118					7.26314e-15	1.07064e-14	0.717897	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28734145	28734145	+	RNA	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:28734145C>A	ENST00000550043.1	+	0	550																											ATATTCCCCCCAAGGAGTTCC	0.473000													18	65					2.98393e-07	3.51362e-07	0.639603	1	0
KCNQ5	56479	broad.mit.edu	37	6	73900343	73900343	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:73900343G>T	ENST00000342056.2	+	13	2080	c.1682G>T	c.(1681-1683)cGt>cTt	p.R561L	KCNQ5_ENST00000414165.2_Missense_Mutation_p.R432L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R552L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R533L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R542L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R543L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R542L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	542					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAAACATTACGTCCATATGAT	0.303000													8	15					5.18039e-06	5.86571e-06	0.278610	1	0
OR2B11	127623	broad.mit.edu	37	1	247614520	247614520	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:247614520G>T	ENST00000318749.6	-	1	788	c.765C>A	c.(763-765)ttC>ttA	p.F255L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGGTAGGTAGAAGAGGGAGA	0.522000													33	112					8.16277e-20	1.3342e-19	0.827153	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128471	68128471	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:68128471T>A	ENST00000585558.1	+	4	736	c.348T>A	c.(346-348)taT>taA	p.Y116*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.Y81*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.Y81*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.Y120*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.Y81*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.Y81*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	81					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTTTATCTTATATTCTCTCGT	0.413000													21	66					0	0	0.639603	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	34					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179641438	179641438	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:179641438C>A	ENST00000589042.1	-	28	5377	c.5153G>T	c.(5152-5154)gGg>gTg	p.G1718V	TTN_ENST00000342992.6_Missense_Mutation_p.G1718V|TTN_ENST00000591111.1_Missense_Mutation_p.G1718V|TTN_ENST00000342175.6_Missense_Mutation_p.G1672V|TTN_ENST00000460472.2_Missense_Mutation_p.G1672V|TTN_ENST00000360870.5_Missense_Mutation_p.G1718V|TTN_ENST00000359218.5_Missense_Mutation_p.G1672V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1472	Ig-like 8.						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)			GTGGGCAGGCCCAAAGCGCTT	0.478000													14	33					2.31682e-05	2.56494e-05	0.479597	1	0
OR2T27	403239	broad.mit.edu	37	1	248813285	248813285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:248813285G>T	ENST00000344889.3	-	1	900	c.901C>A	c.(901-903)Cta>Ata	p.L301I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTCTGTAGGGCCCCTGTG	0.463000													28	89					3.6622e-26	6.50694e-26	0.788014	1	0
RNF115	27246	broad.mit.edu	37	1	145611284	145611284	+	Silent	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:145611284A>T	ENST00000369291.4	+	1	249	c.45A>T	c.(43-45)gtA>gtT	p.V15V		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115	15					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						GCGCCGCTGTAGCCGCCCACC	0.662000													4	13					0	0	0.217242	0	0
MDGA1	266727	broad.mit.edu	37	6	37606422	37606422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:37606422C>A	ENST00000434837.2	-	15	3736	c.2558G>T	c.(2557-2559)cGg>cTg	p.R853L	MDGA1_ENST00000505425.1_Missense_Mutation_p.R853L|MDGA1_ENST00000297153.7_Missense_Mutation_p.R857L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	853	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTTCCGGGACCGCACCAGGAG	0.617000													10	12					2.27111e-07	2.6822e-07	0.411799	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51630385	51630385	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:51630385G>T	ENST00000440804.3	+	4	914	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A283S	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	283	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAATCCCCCTGCCAGGCTGAG	0.617000													39	83					8.48111e-28	1.53431e-27	0.870114	1	0
PAOX	196743	broad.mit.edu	37	10	135193660	135193660	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:135193660G>T	ENST00000278060.5	+	2	422	c.339G>T	c.(337-339)gtG>gtT	p.V113V	PAOX_ENST00000357296.3_Silent_p.V113V|PAOX_ENST00000480071.2_Silent_p.V113V|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	251					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGCCCTCCGTGAGCTACGCCA	0.667000													5	16					1.23904e-05	1.37941e-05	0.184627	1	0
CNTN2	6900	broad.mit.edu	37	1	205038618	205038618	+	Splice_Site	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:205038618G>C	ENST00000331830.4	+	17	2409		c.e17-1			NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)						axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTTGACAGCCCCCTCGGT	0.582000													3	73					0	0	0.150653	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67321889	67321889	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:67321889C>T	ENST00000360461.5	+	18	5727	c.3192C>T	c.(3190-3192)cgC>cgT	p.R1064R	PLEKHG4_ENST00000427155.2_Silent_p.R1064R|PLEKHG4_ENST00000450733.1_Silent_p.R983R|PLEKHG4_ENST00000379344.3_Silent_p.R1064R	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1064			R -> H (in dbSNP:rs56077142).		regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCAACGACCGCACCGTCAACT	0.602000													45	128					0	0	0.870114	0	0
TTC21B	79809	broad.mit.edu	37	2	166788267	166788267	+	Splice_Site	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:166788267C>T	ENST00000243344.7	-	8	1032		c.e8+1			NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGCACTCTCACAGTTCTGCTG	0.448000													18	36					0	0	0.624587	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671594	51671594	+	RNA	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:51671594A>G	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							TGGTGTGACCACGGAGAGAAC	0.617000													16	25					0	0	0.624587	0	0
GPR26	2849	broad.mit.edu	37	10	125447488	125447488	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:125447488G>T	ENST00000284674.1	+	3	879	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	276					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCCACTGGGGGGTGCTGTC	0.577000													20	115					1.2476e-16	1.90979e-16	0.706142	1	0
FOXI1	2299	broad.mit.edu	37	5	169533520	169533520	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:169533520G>T	ENST00000449804.2	+	1	604	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	FOXI1_ENST00000306268.6_Missense_Mutation_p.D187Y	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	187					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCCCCGCGACGAGGACGA	0.582000									Pendred syndrome				15	24					1.28384e-07	1.52528e-07	0.608945	1	0
ABCC4	10257	broad.mit.edu	37	13	95861710	95861710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:95861710C>A	ENST00000376887.4	-	6	877	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.G180W|ABCC4_ENST00000431522.1_Missense_Mutation_p.G255W|ABCC4_ENST00000412704.1_Missense_Mutation_p.G255W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	255	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AACAACTTCCCAAAACAGCTT	0.438000													23	55					1.39806e-14	2.05323e-14	0.729181	1	0
TBC1D24	57465	broad.mit.edu	37	16	2550421	2550421	+	Silent	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:2550421T>C	ENST00000567020.1	+	6	1577	c.1437T>C	c.(1435-1437)gcT>gcC	p.A479A	TBC1D24_ENST00000293970.5_Silent_p.A485A|TBC1D24_ENST00000434757.2_Silent_p.A485A|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	485	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCTGGCCGCTCGCCACTTCA	0.687000													8	26					0	0	0.335167	0	0
IFT122	55764	broad.mit.edu	37	3	129196948	129196948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:129196948G>T	ENST00000296266.3	+	13	1582	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	IFT122_ENST00000504021.1_Nonsense_Mutation_p.E307*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.E413*|IFT122_ENST00000440957.2_Nonsense_Mutation_p.E204*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.E354*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.E405*|IFT122_ENST00000349441.2_Nonsense_Mutation_p.E302*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.E263*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	413					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTCATCTATGAGTTGTATTC	0.413000													19	28					1.01871e-10	1.33811e-10	0.575678	1	0
AADACL3	126767	broad.mit.edu	37	1	12785667	12785667	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:12785667G>A	ENST00000332530.3	+	3	773	c.547G>A	c.(547-549)Gct>Act	p.A183T	AADACL3_ENST00000359318.5_Missense_Mutation_p.A253T	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	253							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATGAATGAAGCTGCTTACTT	0.502000													49	124					0	0	0.870114	0	0
MDGA2	161357	broad.mit.edu	37	14	47530454	47530454	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:47530454G>T	ENST00000426342.1	-	7	1375	c.629C>A	c.(628-630)aCa>aAa	p.T210K	MDGA2_ENST00000357362.3_Missense_Mutation_p.T210K|MDGA2_ENST00000399232.2_Missense_Mutation_p.T508K|MDGA2_ENST00000439988.2_Missense_Mutation_p.T439K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	439	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCTCTTACCTGTGCTGCTGGA	0.328000													36	102					2.6416e-12	3.67607e-12	0.819951	1	0
SHANK1	50944	broad.mit.edu	37	19	51205845	51205845	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:51205845G>A	ENST00000293441.1	-	11	1644	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	SHANK1_ENST00000391814.1_Silent_p.G542G|SHANK1_ENST00000359082.3_Silent_p.G542G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	542					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCGCGGCTGCCCAGGGAGC	0.711000													4	3					0	0	0.150653	0	0
IL36A	27179	broad.mit.edu	37	2	113763577	113763577	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:113763577G>T	ENST00000259211.6	+	2	448	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						ACCTCAGCAGGGGAGCATTCA	0.473000													21	128					1.2476e-16	1.90979e-16	0.706142	1	0
PYHIN1	149628	broad.mit.edu	37	1	158909015	158909015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:158909015C>A	ENST00000368140.1	+	4	802	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	PYHIN1_ENST00000392254.2_Missense_Mutation_p.P186Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P177Q|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P186Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P177Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	186					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCATCAGCTCCACCCAACACT	0.507000													26	117					2.46105e-21	4.10691e-21	0.750413	1	0
DMTF1	9988	broad.mit.edu	37	7	86795914	86795914	+	Silent	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:86795914A>G	ENST00000394703.5	+	6	788	c.225A>G	c.(223-225)gcA>gcG	p.A75A	DMTF1_ENST00000394702.3_Silent_p.A75A|DMTF1_ENST00000331242.7_Silent_p.A75A|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000413276.2_Silent_p.A75A|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	75	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CAGTTGTTGCACTTCCACGTA	0.383000													34	131					0	0	0.870114	0	0
KCNH5	27133	broad.mit.edu	37	14	63417159	63417159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:63417159C>A	ENST00000322893.7	-	7	1329	c.1061G>T	c.(1060-1062)tGt>tTt	p.C354F	KCNH5_ENST00000394968.1_Missense_Mutation_p.C296F|KCNH5_ENST00000420622.2_Missense_Mutation_p.C354F|KCNH5_ENST00000394964.2_Missense_Mutation_p.C296F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	354					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.C354F(1)|p.C296F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCAAACACACACACCAGGAG	0.502000													28	54					3.33393e-15	4.94192e-15	0.804634	1	0
OR10G7	390265	broad.mit.edu	37	11	123908819	123908819	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:123908819G>C	ENST00000330487.5	-	1	898	c.890C>G	c.(889-891)gCt>gGt	p.A297G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTCAACAGAGCTTTCTTTAC	0.408000													16	42					0	0	0.639603	0	0
CHGB	1114	broad.mit.edu	37	20	5897523	5897523	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:5897523G>A	ENST00000378961.4	+	3	352	c.148G>A	c.(148-150)Gct>Act	p.A50T	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	50						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGTCCAGCGCTCCACCCAT	0.557000													46	163					0	0	0.870114	0	0
MFRP	83552	broad.mit.edu	37	11	119212268	119212268	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:119212268G>T	ENST00000555262.1	-	13	1889	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	MFRP_ENST00000530681.1_Missense_Mutation_p.A577D|MFRP_ENST00000360167.4_Missense_Mutation_p.A459D|MFRP_ENST00000449574.2_Missense_Mutation_p.A577D|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TCAGGGCTGGGCACAAGCTTC	0.652000													6	30					0.00307968	0.00320867	0.278610	1	0
ENPEP	2028	broad.mit.edu	37	4	111441506	111441506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:111441506C>G	ENST00000265162.5	+	10	2053	c.1711C>G	c.(1711-1713)Ccc>Gcc	p.P571A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	571					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCCTTCTCAGCCCCCTTCAGA	0.408000													17	61					0	0	0.539581	0	0
HTR2C	3358	broad.mit.edu	37	X	114141304	114141304	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:114141304T>G	ENST00000276198.1	+	6	1431	c.703T>G	c.(703-705)Tgc>Ggc	p.C235G	HTR2C_ENST00000371951.1_Missense_Mutation_p.C235G|HTR2C_ENST00000371950.3_Missense_Mutation_p.L203W	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	235					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GATTACGTATTGCCTGACCAT	0.502000													193	166					0	0	0.870114	0	0
TUBG1	7283	broad.mit.edu	37	17	40766620	40766620	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:40766620C>T	ENST00000251413.3	+	10	1165	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	368					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCCTACCTGCCCTCGGCCCAC	0.597000													46	148					0	0	0.870114	0	0
ABHD1	84696	broad.mit.edu	37	2	27346891	27346891	+	Silent	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:27346891T>A	ENST00000316470.4	+	1	189	c.75T>A	c.(73-75)gtT>gtA	p.V25V		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	25						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTGCCGTTGCCCTCTACT	0.617000													20	79					0	0	0.608945	0	0
GPAM	57678	broad.mit.edu	37	10	113920501	113920501	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:113920501C>A	ENST00000348367.4	-	16	1817	c.1620G>T	c.(1618-1620)ctG>ctT	p.L540L	GPAM_ENST00000369425.1_Silent_p.L540L|GPAM_ENST00000423155.1_Silent_p.L540L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	540					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CACAATTTCCCAGCAGCTGTA	0.453000													15	47					5.03518e-11	6.68001e-11	0.557998	1	0
OR5H15	403274	broad.mit.edu	37	3	97887591	97887591	+	Silent	SNP	A	A	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:97887591A>C	ENST00000356526.2	+	1	48	c.48A>C	c.(46-48)ggA>ggC	p.G16G		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTCTCACAGGATTTTTATATC	0.388000													81	117					0	0	0.870114	0	0
LPHN3	23284	broad.mit.edu	37	4	62910169	62910169	+	Splice_Site	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:62910169A>T	ENST00000512091.1	+	24	4260		c.e24-1		LPHN3_ENST00000508946.1_Splice_Site|LPHN3_ENST00000545650.1_Splice_Site|LPHN3_ENST00000507625.1_Splice_Site|LPHN3_ENST00000514591.1_Splice_Site|LPHN3_ENST00000506746.1_Splice_Site|LPHN3_ENST00000514157.1_Splice_Site|LPHN3_ENST00000506700.1_Splice_Site|LPHN3_ENST00000506720.1_Splice_Site|LPHN3_ENST00000508693.1_Splice_Site|LPHN3_ENST00000504896.1_Splice_Site|LPHN3_ENST00000507164.1_Splice_Site|LPHN3_ENST00000509896.1_Splice_Site|LPHN3_ENST00000511324.1_Splice_Site|LPHN3_ENST00000514996.1_Splice_Site			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCCCCCACCCAGAGCCGAATC	0.403000													3	8					0	0	0.150653	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561544	84561544	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:84561544G>T	ENST00000286744.5	+	13	1595	c.1371G>T	c.(1369-1371)gtG>gtT	p.V457V	ADAMTSL3_ENST00000567476.1_Silent_p.V457V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	457	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TATTGCAGGTGGAAGAATGGA	0.478000													14	48					8.60227e-14	1.23599e-13	0.500413	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706235	33706235	+	Nonsense_Mutation	SNP	C	C	A	rs117497867	by1000genomes	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:33706235C>A	ENST00000269187.5	-	2	949	c.736G>T	c.(736-738)Gag>Tag	p.E246*	SLC39A6_ENST00000590986.1_Nonsense_Mutation_p.E246*|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	246						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTTCGGGGCTCACTCACAGAT	0.458000													50	121					2.37032e-18	3.78871e-18	0.870114	1	0
POP7	10248	broad.mit.edu	37	7	100304593	100304593	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:100304593C>A	ENST00000303151.4	+	2	402	c.140C>A	c.(139-141)gCc>gAc	p.A47D		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	47					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACTTTAAGGCCCAGCTGGCC	0.592000													24	101					3.73148e-12	5.18369e-12	0.717897	1	0
MCM4	4173	broad.mit.edu	37	8	48883391	48883391	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:48883391G>A	ENST00000262105.2	+	11	1964	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	MCM4_ENST00000523944.1_Silent_p.S585S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	585	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GTACAAGATCGGTATTGCATG	0.483000													27	39					0	0	0.740014	0	0
HECTD1	25831	broad.mit.edu	37	14	31643008	31643008	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:31643008G>A	ENST00000399332.1	-	5	1096	c.608C>T	c.(607-609)tCa>tTa	p.S203L	HECTD1_ENST00000553700.1_Missense_Mutation_p.S203L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	203					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCTCCATCTGAAACCTAACA	0.443000													5	19					0	0	0.278610	0	0
FAM84A	151354	broad.mit.edu	37	2	14774273	14774273	+	Missense_Mutation	SNP	C	C	A	rs78327295		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:14774273C>A	ENST00000295092.2	+	2	458	c.170C>A	c.(169-171)gCc>gAc	p.A57D	FAM84A_ENST00000331243.4_Missense_Mutation_p.A57D	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	57										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGTGAAGGCCCCCCCGGGT	0.632000													6	34					2.17888e-05	2.41895e-05	0.335167	1	0
NPC1L1	29881	broad.mit.edu	37	7	44578591	44578591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:44578591C>A	ENST00000289547.4	-	2	1460	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	NPC1L1_ENST00000423141.1_Missense_Mutation_p.D469Y|NPC1L1_ENST00000546276.1_Missense_Mutation_p.D469Y|NPC1L1_ENST00000381160.3_Missense_Mutation_p.D469Y	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	469					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TAGCAGATGTCCTGCAGGGAG	0.597000													22	43					2.21704e-12	3.09065e-12	0.639603	1	0
GGA3	23163	broad.mit.edu	37	17	73242605	73242605	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:73242605C>G	ENST00000245541.6	-	3	402	c.186G>C	c.(184-186)gcG>gcC	p.A62A	GGA3_ENST00000538886.1_Intron|GGA3_ENST00000537686.1_Silent_p.A62A|GGA3_ENST00000578348.1_5'UTR|GGA3_ENST00000351904.7_Silent_p.A62A|GGA3_ENST00000579743.1_5'UTR|GGA3_ENST00000582717.1_5'UTR|GGA3_ENST00000582486.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	62	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGGCCTGGAGCGCCTCCCATT	0.627000													6	50					0	0	0.278610	0	0
RAB38	23682	broad.mit.edu	37	11	87847300	87847300	+	Silent	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:87847300T>A	ENST00000243662.6	-	3	574	c.492A>T	c.(490-492)atA>atT	p.I164I	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	164					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATCAATGTTTATATTTTCCT	0.368000													29	73					0	0	0.779181	0	0
TENM3	55714	broad.mit.edu	37	4	183714004	183714004	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:183714004G>A	ENST00000511685.1	+	26	6302	c.6179G>A	c.(6178-6180)gGa>gAa	p.G2060E	TENM3_ENST00000406950.2_Missense_Mutation_p.G2060E					teneurin transmembrane protein 3																		GGAAAGTTTGGAGTTATATAT	0.398000													14	27					0	0	0.457914	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564594	84564594	+	RNA	SNP	A	A	T	rs139573854	by1000genomes	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:84564594A>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GTCCAGGGCTATCCCTGCAAC	0.517000													6	16					0	0	0.248553	0	0
MEOX2	4223	broad.mit.edu	37	7	15725877	15725877	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:15725877C>T	ENST00000262041.5	-	1	560	c.151G>A	c.(151-153)Gcg>Acg	p.A51T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	51					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GGGTATCCCGCGATTATGCAA	0.567000													7	28					0	0	0.307466	0	0
CDH22	64405	broad.mit.edu	37	20	44828102	44828102	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:44828102C>T	ENST00000372262.3	-	7	1783	c.1383G>A	c.(1381-1383)acG>acA	p.T461T	CDH22_ENST00000537909.1_Silent_p.T461T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	461	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCCAGCCGGCCGTCTCGCGGT	0.622000													8	39					0	0	0.361761	0	0
WNT2	7472	broad.mit.edu	37	7	116937844	116937844	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:116937844G>C	ENST00000265441.3	-	4	974	c.675C>G	c.(673-675)gcC>gcG	p.A225A		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	225					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCCTGAAGTCGGCCATGGCCA	0.542000													58	164					0	0	0.870114	0	0
PTGFR	5737	broad.mit.edu	37	1	78958700	78958700	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:78958700T>C	ENST00000370756.3	+	2	509	c.272T>C	c.(271-273)gTa>gCa	p.V91A	PTGFR_ENST00000370757.3_Missense_Mutation_p.V91A|PTGFR_ENST00000370758.1_Missense_Mutation_p.V91A	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	91					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCAGTATTTGTATATGCTTCT	0.423000													47	103					0	0	0.870114	0	0
FAM135B	51059	broad.mit.edu	37	8	139163779	139163779	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:139163779T>A	ENST00000395297.1	-	13	3109	c.2939A>T	c.(2938-2940)cAt>cTt	p.H980L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	980										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCTGCTTTATGTTTAGCCTC	0.498000										HNSCC(54;0.14)			29	93					0	0	0.779181	0	0
SCN3A	6328	broad.mit.edu	37	2	166018827	166018827	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:166018827G>A	ENST00000360093.3	-	9	1513	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	SCN3A_ENST00000409101.3_Missense_Mutation_p.S341L|SCN3A_ENST00000283254.7_Missense_Mutation_p.S341L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	341						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCCTGCATCTGAGCCATTTCC	0.308000													47	111					0	0	0.870114	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508437	106508437	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:106508437C>G	ENST00000359195.3	+	2	741	c.431C>G	c.(430-432)tCc>tGc	p.S144C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S144C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S144C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	144					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CACCCGCCCTCCGAGGAGTCC	0.652000													9	18					0	0	0.307466	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573919	101573919	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:101573919T>A	ENST00000326172.5	+	7	1572	c.1457T>A	c.(1456-1458)gTg>gAg	p.V486E	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.V364E|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.V386E	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	486	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GCCTTTCAGGTGGCAGTGGCT	0.443000													65	48					0	0	0.870114	0	0
ACADL	33	broad.mit.edu	37	2	211081119	211081119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:211081119G>T	ENST00000233710.3	-	4	715	c.488C>A	c.(487-489)gCa>gAa	p.A163E	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	163					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ACATTTGCCTGCAGTCATCTG	0.408000													35	129					1.32136e-16	2.01494e-16	0.840704	1	0
MIR217HG	104355290	broad.mit.edu	37	2	56216195	56216195	+	RNA	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:56216195C>T	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA																							CACAGCCATCCGTGTTAGACC	0.493000													3	77					0	0	0.150653	0	0
EFNB2	1948	broad.mit.edu	37	13	107147282	107147282	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:107147282G>A	ENST00000245323.4	-	4	709	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	187					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ATTTGTACCAGCTTCTAGTTC	0.403000													15	120					0	0	0.539581	0	0
TTK	7272	broad.mit.edu	37	6	80750364	80750364	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:80750364G>T	ENST00000509894.1	+	21	3260	c.2431G>T	c.(2431-2433)Gtt>Ttt	p.V811F	TTK_ENST00000369798.2_Missense_Mutation_p.V812F|TTK_ENST00000230510.3_Missense_Mutation_p.V811F			P33981	TTK_HUMAN	TTK protein kinase	812					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATGAAATATGTTCTGGGCCA	0.299000													3	82					6.4e-05	7.01863e-05	0.115264	1	0
DNAH7	56171	broad.mit.edu	37	2	196801416	196801416	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:196801416T>A	ENST00000312428.6	-	20	3279	c.3179A>T	c.(3178-3180)tAt>tTt	p.Y1060F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1060	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTTCCAAATATTCATTAAG	0.348000													10	25					0	0	0.361761	0	0
ATRN	8455	broad.mit.edu	37	20	3565369	3565369	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:3565369G>C	ENST00000262919.5	+	18	3094	c.3026G>C	c.(3025-3027)aGc>aCc	p.S1009T	ATRN_ENST00000446916.2_Missense_Mutation_p.S1009T	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1009	PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTGATCCCAGCAATACTGGC	0.453000													27	68					0	0	0.779181	0	0
CDH10	1008	broad.mit.edu	37	5	24488098	24488098	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:24488098T>A	ENST00000264463.4	-	12	2548	c.2041A>T	c.(2041-2043)Att>Ttt	p.I681F	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	681					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)		TTTTCCTCAATGGCTGCAGGA	0.483000										HNSCC(23;0.051)			16	52					0	0	0.557998	0	0
NCAPD3	23310	broad.mit.edu	37	11	134054825	134054825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:134054825G>A	ENST00000534548.2	-	18	2372	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	770					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTGCTCTTAGGAAGATGCTTT	0.453000													58	899					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170101407	170101407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:170101407G>T	ENST00000263816.3	-	22	3511	c.3226C>A	c.(3226-3228)Cat>Aat	p.H1076N	LRP2_ENST00000443831.1_Missense_Mutation_p.H939N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1076	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTCCCCATGGCCACAGGTG	0.493000													45	131					2.65591e-33	5.02163e-33	0.870114	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712341	140712341	+	Missense_Mutation	SNP	C	C	T	rs140634036		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140712341C>T	ENST00000517417.1	+	1	2090	c.2090C>T	c.(2089-2091)gCg>gTg	p.A697V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A697V	NM_018912.2	NP_061735.1												p.A697V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGCGGCGGCCGCGGTC	0.672000													11	140					0	0	0.435327	0	0
HIC1	3090	broad.mit.edu	37	17	1961716	1961716	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:1961716G>A	ENST00000399849.2	+	2	1892	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	HIC1_ENST00000322941.3_Missense_Mutation_p.G597S	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	597					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCAGGTGTGCGGCGGCAAGTT	0.716000													8	19					0	0	0.387290	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558559	113558559	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:113558559C>A	ENST00000284601.3	-	1	561	c.493G>T	c.(493-495)Gac>Tac	p.D165Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	165	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCTGCCAGTCATCTAAAGAC	0.353000													11	32					0.00010058	0.000109225	0.411799	1	0
SMG1	23049	broad.mit.edu	37	16	18841079	18841079	+	Splice_Site	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:18841079T>G	ENST00000446231.2	-	54	9546		c.e54-2		SMG1_ENST00000389467.3_Splice_Site			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase						DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AACTTGATCCTACAAAAAGGA	0.308000													3	28					0	0	0.115264	0	0
CMA1	1215	broad.mit.edu	37	14	24974753	24974753	+	Missense_Mutation	SNP	G	G	T	rs145496377		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:24974753G>T	ENST00000250378.3	-	5	742	c.713C>A	c.(712-714)cCc>cAc	p.P238H	CMA1_ENST00000206446.4_Missense_Mutation_p.P127H|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	238	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTTGATCCAGGGCCGGTAATG	0.577000													34	96					9.73076e-26	1.7251e-25	0.827153	1	0
RPL9	6133	broad.mit.edu	37	4	39456152	39456152	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:39456152C>A	ENST00000449470.2	-	6	1038		c.e6+1		RPL9_ENST00000295955.9_Splice_Site	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						TAAGAACTTACCTCTTAGATC	0.323000													3	24					0.014758	0.0151579	0.184627	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652034	121652034	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:121652034C>A	ENST00000393386.2	+	12	3345	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	978					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.T978T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGTTAATAACCCCAACTGCAT	0.453000													31	107					8.16277e-20	1.3342e-19	0.827153	1	0
LPHN3	23284	broad.mit.edu	37	4	62910170	62910170	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:62910170G>T	ENST00000512091.1	+	24	4260		c.e24-1		LPHN3_ENST00000508946.1_Splice_Site|LPHN3_ENST00000545650.1_Splice_Site|LPHN3_ENST00000507625.1_Splice_Site|LPHN3_ENST00000514591.1_Splice_Site|LPHN3_ENST00000506746.1_Splice_Site|LPHN3_ENST00000514157.1_Splice_Site|LPHN3_ENST00000506700.1_Splice_Site|LPHN3_ENST00000506720.1_Splice_Site|LPHN3_ENST00000508693.1_Splice_Site|LPHN3_ENST00000504896.1_Splice_Site|LPHN3_ENST00000507164.1_Splice_Site|LPHN3_ENST00000509896.1_Splice_Site|LPHN3_ENST00000511324.1_Splice_Site|LPHN3_ENST00000514996.1_Splice_Site			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCCCCACCCAGAGCCGAATCC	0.403000													3	8					0.00024832	0.000266392	0.150653	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885284	88885284	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:88885284T>G	ENST00000319675.3	-	1	1012	c.916A>C	c.(916-918)Aca>Cca	p.T306P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	306										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCGTACTGTGTTACACATTTA	0.517000													26	106					0	0	0.769981	0	0
MIR1202	100302259	broad.mit.edu	37	6	156267947	156267947	+	RNA	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:156267947C>A	ENST00000408529.1	+	0	17					NR_031606.1																						gcagaggtgccagctgcagtg	0.572000													5	12					0.000157383	0.000169752	0.278610	1	0
FLG	2312	broad.mit.edu	37	1	152281731	152281731	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:152281731G>T	ENST00000368799.1	-	3	5666	c.5631C>A	c.(5629-5631)ggC>ggA	p.G1877G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1877	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCCTGGAGCCGTCTCCTG	0.582000									Ichthyosis				120	320					2.18733e-79	4.43032e-79	0.870114	1	0
LRRC39	127495	broad.mit.edu	37	1	100620700	100620700	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:100620700G>A	ENST00000370138.1	-	8	917	c.719C>T	c.(718-720)aCa>aTa	p.T240I	LRRC39_ENST00000370137.1_Missense_Mutation_p.T240I|LRRC39_ENST00000342895.3_Missense_Mutation_p.T240I	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	240										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATTGCTGATTGTTTGAGGCAA	0.323000													17	47					0	0	0.557998	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139917	178139917	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:178139917G>A	ENST00000335815.2	-	5	1159	c.962C>T	c.(961-963)gCt>gTt	p.A321V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	321					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTTTTCTTCAGCATGAATTTT	0.398000													4	35					0	0	0.217242	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20599944	20599944	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:20599944C>T	ENST00000202677.6	-	12	1658	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	506					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGACGCCGGCTTTCACATTT	0.502000													8	25					0	0	0.361761	0	0
RAB39B	116442	broad.mit.edu	37	X	154490216	154490216	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:154490216A>G	ENST00000369454.3	-	2	814	c.514T>C	c.(514-516)Tat>Cat	p.Y172H		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	172					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAGCTCATATATGTCTCTT	0.478000													32	22					0	0	0.827153	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678426	37678426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:37678426G>A	ENST00000379800.3	-	1	1377	c.968C>T	c.(967-969)aCa>aTa	p.T323I		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	323					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTGCTTGCCTGTCTGGGTTTG	0.453000													27	43					0	0	0.729181	0	0
TBX22	50945	broad.mit.edu	37	X	79279582	79279582	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:79279582G>T	ENST00000442340.1	+	4	507	c.17G>T	c.(16-18)cGg>cTg	p.R6L	TBX22_ENST00000373291.1_Missense_Mutation_p.R6L|TBX22_ENST00000373296.3_Missense_Mutation_p.R126L|TBX22_ENST00000373294.5_Missense_Mutation_p.R126L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	126					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R126L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCTCTGTTCGGGTCAAGGTG	0.488000													38	34					1.89013e-27	3.41166e-27	0.870114	1	0
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:170695536C>G	ENST00000239461.6	+	3	906	c.593C>G	c.(592-594)cCg>cGg	p.P198R	PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562000													27	150					0	0	0.812448	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67198888	67198888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:67198888G>T	ENST00000312629.5	+	5	404	c.359G>T	c.(358-360)cGg>cTg	p.R120L	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R120L|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_Intron	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	120	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGGCTGAGCGGAACATTCTA	0.522000													31	98					5.90632e-09	7.35749e-09	0.760397	1	0
USP31	57478	broad.mit.edu	37	16	23079370	23079370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:23079370C>A	ENST00000219689.7	-	16	4055	c.4056G>T	c.(4054-4056)caG>caT	p.Q1352H	USP31_ENST00000567975.1_Missense_Mutation_p.Q645H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1352					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAATATCACTGAGGTTTTT	0.433000													23	88					8.4185e-14	1.21397e-13	0.760397	1	0
FBXL7	23194	broad.mit.edu	37	5	15928465	15928465	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:15928465G>C	ENST00000504595.1	+	3	1075	c.594G>C	c.(592-594)cgG>cgC	p.R198R	FBXL7_ENST00000510662.1_Silent_p.R151R|FBXL7_ENST00000329673.7_Silent_p.R186R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	198					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGCAGGCGGCTCACAGACC	0.607000													8	15					0	0	0.335167	0	0
SH3TC1	54436	broad.mit.edu	37	4	8230277	8230277	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:8230277G>A	ENST00000539824.1	+	12	3002	c.2628G>A	c.(2626-2628)ctG>ctA	p.L876L	SH3TC1_ENST00000245105.3_Silent_p.L952L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	952							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCTGCAGCTGGGCCATCTCT	0.692000													4	21					0	0	0.217242	0	0
FAM227B	196951	broad.mit.edu	37	15	49907321	49907321	+	Silent	SNP	G	G	T	rs146493430		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:49907321G>T	ENST00000299338.6	-	2	351	c.48C>A	c.(46-48)ccC>ccA	p.P16P	FAM227B_ENST00000558594.1_Silent_p.P16P|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Silent_p.P16P|FAM227B_ENST00000561064.1_Silent_p.P16P	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TCCTTACCCCGGGGCCAGCTC	0.473000													42	119					2.73381e-35	5.24364e-35	0.870114	1	0
ACYP2	98	broad.mit.edu	37	2	54365808	54365808	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:54365808G>T	ENST00000406041.1	+	3	404	c.192G>T	c.(190-192)gtG>gtT	p.V64V	ACYP2_ENST00000303536.4_Silent_p.V64V|ACYP2_ENST00000394666.3_Silent_p.V36V|ACYP2_ENST00000607452.1_Silent_p.V109V|ACYP2_ENST00000606865.1_Silent_p.V20V			P14621	ACYP2_HUMAN	acylphosphatase 2, muscle type	36	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			lung(1)	1						AAATAGGAGTGGTTGGCTGGG	0.398000													3	47					0.0293803	0.0299446	0.248553	1	0
GRAP2	9402	broad.mit.edu	37	22	40362076	40362076	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:40362076C>A	ENST00000344138.4	+	5	636	c.373C>A	c.(373-375)Cta>Ata	p.L125I	GRAP2_ENST00000540310.1_Missense_Mutation_p.L59I|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000407075.3_Missense_Mutation_p.L125I|GRAP2_ENST00000544756.1_Missense_Mutation_p.L53I|GRAP2_ENST00000543252.1_Missense_Mutation_p.L85I	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	125	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GTTTCCATCCCTAAATAAGCT	0.453000													33	46					4.92203e-23	8.44382e-23	0.819951	1	0
DDX21	9188	broad.mit.edu	37	10	70733332	70733332	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:70733332G>A	ENST00000354185.4	+	10	1678	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	527	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CGATCCGGGCGGACAGGCAGA	0.433000													4	87					0	0	0.150653	0	0
CTBP2	1488	broad.mit.edu	37	10	126714718	126714718	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:126714718C>G	ENST00000309035.6	-	1	1741	c.1611G>C	c.(1609-1611)ccG>ccC	p.P537P	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTCTGGTACGGTGAGTGAG	0.682000													40	212					0	0	0.847076	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268438	53268438	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:53268438C>A	ENST00000396435.3	-	11	3254	c.3054G>T	c.(3052-3054)acG>acT	p.T1018T	IQSEC2_ENST00000375365.2_Silent_p.T813T|IQSEC2_ENST00000375368.5_Silent_p.T1008T	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1008	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGAAACTGTACGTCACCAAGA	0.507000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	11					6.21321e-17	9.58472e-17	0.639603	1	0
RBFOX1	54715	broad.mit.edu	37	16	7629815	7629815	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:7629815C>A	ENST00000340209.4	+	3	619	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	RBFOX1_ENST00000436368.2_Missense_Mutation_p.Q123K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Q146K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Q123K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Q103K|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Q138K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Q103K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.Q146K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Q123K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.Q103K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	103					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGGCCAGCCCCAGACACAACC	0.527000													24	83					7.26314e-15	1.07064e-14	0.717897	1	0
C1orf173	127254	broad.mit.edu	37	1	75037385	75037385	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:75037385C>A	ENST00000326665.5	-	14	4227	c.4009G>T	c.(4009-4011)Gtt>Ttt	p.V1337F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1337	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAGCCACAACCCTTCCTCCT	0.562000													41	98					7.05121e-23	1.20446e-22	0.853193	1	0
DACH2	117154	broad.mit.edu	37	X	86067926	86067926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:86067926G>T	ENST00000373131.1	+	7	1432	c.1269G>T	c.(1267-1269)caG>caT	p.Q423H	DACH2_ENST00000510272.1_Missense_Mutation_p.Q217H|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.Q436H|DACH2_ENST00000508860.1_Missense_Mutation_p.Q269H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTCCTGGGCAGGCATTGCCCG	0.433000													17	24					8.28177e-16	1.23915e-15	0.557998	1	0
SETBP1	26040	broad.mit.edu	37	18	42531662	42531662	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:42531662C>A	ENST00000282030.5	+	4	2653	c.2357C>A	c.(2356-2358)tCc>tAc	p.S786Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	786						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTAGGTGGGTCCAATGGCAAC	0.507000									Schinzel-Giedion syndrome				13	60					0.00185496	0.00194027	0.435327	1	0
DOCK7	85440	broad.mit.edu	37	1	63099202	63099202	+	Silent	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:63099202T>G	ENST00000251157.5	-	10	1116	c.1083A>C	c.(1081-1083)ccA>ccC	p.P361P	DOCK7_ENST00000340370.5_Silent_p.P361P|DOCK7_ENST00000404627.2_Silent_p.P361P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	361					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAATCATATATGGTTCTGCAC	0.368000													43	161					0	0	0.870114	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959834	157959834	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:157959834C>T	ENST00000389413.3	-	6	802	c.699G>A	c.(697-699)gtG>gtA	p.V233V	PTPRN2_ENST00000404321.2_Silent_p.V256V|PTPRN2_ENST00000389416.4_Silent_p.V216V|PTPRN2_ENST00000389418.4_Silent_p.V233V|PTPRN2_ENST00000409483.1_Silent_p.V195V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACCACTGTCCACCTTAGGGC	0.697000													19	46					0	0	0.639603	0	0
GABRG3	2567	broad.mit.edu	37	15	27777972	27777972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:27777972C>A	ENST00000333743.6	+	10	1603	c.1349C>A	c.(1348-1350)cCc>cAc	p.P450H	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	450					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCTTTTTCCCCACGTCCTTC	0.468000													14	31					1.01871e-10	1.33811e-10	0.575678	1	0
GBP6	163351	broad.mit.edu	37	1	89835170	89835170	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:89835170C>A	ENST00000370456.4	+	3	349	c.256C>A	c.(256-258)Cca>Aca	p.P86T	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	86							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CGTGCCCCACCCATCCAAGCC	0.557000													31	72					7.04047e-22	1.18986e-21	0.812448	1	0
POM121L12	285877	broad.mit.edu	37	7	53103782	53103782	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:53103782G>C	ENST00000408890.4	+	1	434	c.418G>C	c.(418-420)Ggg>Cgg	p.G140R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	140										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGACCATCGGGATCGCGCC	0.716000													8	49					0	0	0.411799	0	0
LRP2	4036	broad.mit.edu	37	2	170101220	170101220	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:170101220G>C	ENST00000263816.3	-	22	3698	c.3413C>G	c.(3412-3414)tCt>tGt	p.S1138C	LRP2_ENST00000443831.1_Missense_Mutation_p.S1001C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1138	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTCATCAGATCCATCCCC	0.453000													28	110					0	0	0.812448	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694211	99694211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:99694211G>A	ENST00000354649.3	+	2	939	c.224G>A	c.(223-225)gGg>gAg	p.G75E	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.G75E	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGCCCAAGTGGGGCTGGGGCT	0.647000													6	11					0	0	0.278610	0	0
DUSP27	92235	broad.mit.edu	37	1	167095231	167095231	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:167095231G>T	ENST00000361200.2	+	6	1029	c.863G>T	c.(862-864)cGg>cTg	p.R288L	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.R288L|DUSP27_ENST00000443333.1_Missense_Mutation_p.R288L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	288					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						GACTATGGCCGGGAGGGGGGA	0.632000													4	49					0.00198382	0.00207233	0.248553	1	0
CNPY1	285888	broad.mit.edu	37	7	155295766	155295766	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:155295766G>C	ENST00000321736.5	-	4	438	c.276C>G	c.(274-276)ctC>ctG	p.L92L	CNPY1_ENST00000406197.1_Silent_p.L92L	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	92										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGCACTCCTAGAGCTCAGTAT	0.378000													12	35					0	0	0.479597	0	0
RPAP2	79871	broad.mit.edu	37	1	92789342	92789342	+	Missense_Mutation	SNP	G	G	A	rs147112769	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:92789342G>A	ENST00000370343.3	+	8	974	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	289						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGCTACATGTGAACTTCCTTT	0.373000													20	97					0	0	0.654019	0	0
ZNF22	7570	broad.mit.edu	37	10	45499041	45499041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:45499041G>T	ENST00000298299.3	+	2	818	c.225G>T	c.(223-225)aaG>aaT	p.K75N	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	75					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				AACACCAGAAGATCCATACTG	0.398000													17	32					2.4624e-09	3.09647e-09	0.575678	1	0
NALCN	259232	broad.mit.edu	37	13	101795542	101795542	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:101795542G>T	ENST00000251127.6	-	17	2088	c.2007C>A	c.(2005-2007)cgC>cgA	p.R669R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	669						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGTTGCTGGCGGTCAATAA	0.473000													23	27					8.24728e-16	1.23915e-15	0.681144	1	0
LIG3	3980	broad.mit.edu	37	17	33331509	33331509	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:33331509T>C	ENST00000378526.4	+	20	3147	c.3014T>C	c.(3013-3015)cTg>cCg	p.L1005P		NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	1005	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAACGGAGACTGGTAGCTCCC	0.567000								Other BER factors					21	71					0	0	0.639603	0	0
UBR1	197131	broad.mit.edu	37	15	43270092	43270092	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:43270092G>A	ENST00000290650.4	-	38	4282	c.4204C>T	c.(4204-4206)Ctg>Ttg	p.L1402L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1402					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACATGAAACAGATCTATAGAC	0.303000													13	32					0	0	0.557998	0	0
OR52J3	119679	broad.mit.edu	37	11	5067928	5067928	+	Missense_Mutation	SNP	G	G	T	rs112206544	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:5067928G>T	ENST00000380370.1	+	1	173	c.173G>T	c.(172-174)cGg>cTg	p.R58L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACTCTCCGGGAGCCCATG	0.502000													22	60					1.33986e-20	2.22658e-20	0.681144	1	0
STK11	6794	broad.mit.edu	37	19	1220502	1220502	+	Nonsense_Mutation	SNP	G	G	T	rs121913317		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:1220502G>T	ENST00000326873.7	+	4	1768	c.595G>T	c.(595-597)Gag>Tag	p.E199*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	199	Protein kinase.		E -> K (in colorectal cancer; somatic mutation; impaired kinase activity).|E -> Q (in sporadic cancer; somatic mutation; does not affect kinase activity).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)|p.E199*(2)|p.E199K(1)|p.E199Q(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGTGGCCGAGGTAGGCAC	0.692000	E199*(NCIH2073_LUNG)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	5					0.00909568	0.00940281	0.150653	1	0
FAM159A	348378	broad.mit.edu	37	1	53122564	53122564	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:53122564C>A	ENST00000517870.1	+	3	575	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	142						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGCTTGAACCCGCAGCTGGAG	0.572000													25	111					1.04121e-07	1.25008e-07	0.693898	1	0
GRIN3A	116443	broad.mit.edu	37	9	104433248	104433248	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:104433248G>T	ENST00000361820.3	-	3	2046	c.1446C>A	c.(1444-1446)ggC>ggA	p.G482G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	482					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCTGCCAGCTGCCCAAGCGGG	0.488000													54	125					7.50695e-29	1.37054e-28	0.870114	1	0
VSTM4	196740	broad.mit.edu	37	10	50272776	50272776	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:50272776G>C	ENST00000332853.3	-	5	663	c.640C>G	c.(640-642)Cat>Gat	p.H214D		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	214						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACCAAATAATGTCTCACTGTG	0.348000													24	66					0	0	0.706142	0	0
C7orf25	79020	broad.mit.edu	37	7	42950256	42950256	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:42950256G>A	ENST00000350427.4	-	2	519	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	C7orf25_ENST00000438029.1_Silent_p.L82L|C7orf25_ENST00000431882.2_Silent_p.L140L|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.L82L			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	82										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACTTCTTCCAGGTTTTCTGCT	0.408000													31	109					0	0	0.788014	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423773	33423773	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:33423773G>C	ENST00000395064.2	+	2	1164	c.896G>C	c.(895-897)aGc>aCc	p.S299T		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	299	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATATCAGGAAGCGGAACTCAG	0.542000													24	75					0	0	0.717897	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767934	77767934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:77767934G>T	ENST00000521891.2	+	10	9225	c.8777G>T	c.(8776-8778)cGg>cTg	p.R2926L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2881L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2881L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2900L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2881						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTAATGATCGGCCGGGTCAC	0.498000										HNSCC(33;0.089)			17	24					8.28177e-16	1.23915e-15	0.557998	1	0
RP1	6101	broad.mit.edu	37	8	55540389	55540389	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:55540389C>T	ENST00000220676.1	+	4	4095	c.3947C>T	c.(3946-3948)gCt>gTt	p.A1316V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1316					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGCTTGTGCTCAAAAGGAG	0.413000													33	131					0	0	0.870114	0	0
LDB3	11155	broad.mit.edu	37	10	88451735	88451735	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:88451735G>C	ENST00000429277.2	+	7	1121	c.976G>C	c.(976-978)Gat>Cat	p.D326H	LDB3_ENST00000310944.6_Missense_Mutation_p.D258H|LDB3_ENST00000458213.2_Missense_Mutation_p.D211H|LDB3_ENST00000372056.4_Missense_Mutation_p.D326H|LDB3_ENST00000372066.3_Missense_Mutation_p.D211H|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Missense_Mutation_p.D211H|LDB3_ENST00000361373.4_Missense_Mutation_p.D258H	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	325						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAAGCCAGAAGATGAGGCTGA	0.577000													19	58					0	0	0.608945	0	0
RCSD1	92241	broad.mit.edu	37	1	167659284	167659284	+	Splice_Site	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:167659284A>G	ENST00000367854.3	+	4	529		c.e4-1		RCSD1_ENST00000537350.1_Splice_Site	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1											NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TTTGCTCCATAGAAATCACCA	0.463000													42	137					0	0	0.870114	0	0
SLC5A11	115584	broad.mit.edu	37	16	24922815	24922815	+	Missense_Mutation	SNP	C	C	G	rs141077892		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:24922815C>G	ENST00000347898.3	+	16	2611	c.1989C>G	c.(1987-1989)tgC>tgG	p.C663W	SLC5A11_ENST00000539472.1_Missense_Mutation_p.C599W|SLC5A11_ENST00000569071.1_Missense_Mutation_p.C507W|SLC5A11_ENST00000449109.2_Missense_Mutation_p.C507W|SLC5A11_ENST00000568579.1_Missense_Mutation_p.C593W|SLC5A11_ENST00000567758.1_Missense_Mutation_p.C628W|SLC5A11_ENST00000545376.1_Missense_Mutation_p.C593W|SLC5A11_ENST00000424767.2_Missense_Mutation_p.C628W|SLC5A11_ENST00000565769.1_Missense_Mutation_p.C599W	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	663					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCATTTTCTGCGTGAGCTGCG	0.502000													32	135					0	0	0.804634	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518472	113518472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:113518472G>T	ENST00000284601.3	-	4	2743	c.2675C>A	c.(2674-2676)aCa>aAa	p.T892K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	892					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCCGAGTCTGTTTTCTTTGA	0.368000													12	48					1.49906e-05	1.66655e-05	0.457914	1	0
NT5C2	22978	broad.mit.edu	37	10	104849450	104849450	+	Silent	SNP	C	C	T	rs141031435		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:104849450C>T	ENST00000343289.5	-	18	1752	c.1665G>A	c.(1663-1665)gaG>gaA	p.E555E	NT5C2_ENST00000423468.2_Silent_p.E526E|NT5C2_ENST00000404739.3_Silent_p.E555E|NT5C2_ENST00000369857.4_5'UTR	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	555	Asp/Glu-rich (acidic).				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	cctcctcctcctcttcatcat	0.502000													14	46					0	0	0.520397	0	0
ADAM10	102	broad.mit.edu	37	15	58938268	58938268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:58938268C>G	ENST00000260408.3	-	6	1164	c.721G>C	c.(721-723)Gct>Cct	p.A241P	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	241	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GCAATCACAGCTTCTCGTGTT	0.308000													16	46					0	0	0.667858	0	0
FBN2	2201	broad.mit.edu	37	5	127638773	127638773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:127638773C>A	ENST00000508053.1	-	52	6783	c.5809G>T	c.(5809-5811)Gag>Tag	p.E1937*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1937*			P35556	FBN2_HUMAN	fibrillin 2	1937	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCTCGCACTCATCAACATCT	0.338000													26	40					3.99451e-17	6.19811e-17	0.740014	1	0
C1orf94	84970	broad.mit.edu	37	1	34667817	34667817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:34667817C>A	ENST00000488417.1	+	4	1523	c.1403C>A	c.(1402-1404)cCt>cAt	p.P468H	C1orf94_ENST00000373374.3_Missense_Mutation_p.P278H	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	278							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AACTATCCACCTCCACCAGTG	0.532000													45	101					3.13765e-25	5.5256e-25	0.870114	1	0
OR4P4	81300	broad.mit.edu	37	11	55406709	55406709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:55406709G>T	ENST00000314612.2	+	1	876	c.876G>T	c.(874-876)atG>atT	p.M292I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACACAGAGATGAAGAACGCCA	0.408000													20	14					7.41877e-09	9.15557e-09	0.608945	1	0
DPF1	8193	broad.mit.edu	37	19	38714820	38714820	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:38714820G>T	ENST00000420980.2	-	1	70	c.44C>A	c.(43-45)cCg>cAg	p.P15Q	DPF1_ENST00000412732.1_Intron|DPF1_ENST00000355526.4_Missense_Mutation_p.P15Q|DPF1_ENST00000416611.1_Intron|DPF1_ENST00000456296.1_Intron	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	15					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTCCCCGCCGGGTCGGTCCT	0.761000													8	19					0.000442599	0.00046912	0.335167	1	0
SHANK1	50944	broad.mit.edu	37	19	51217441	51217441	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:51217441C>T	ENST00000293441.1	-	4	656	c.638G>A	c.(637-639)gGa>gAa	p.G213E	SHANK1_ENST00000391814.1_Missense_Mutation_p.G213E|SHANK1_ENST00000359082.3_Missense_Mutation_p.G213E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	213					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCCCTACCTCCCGAATCCGA	0.597000													17	35					0	0	0.639603	0	0
SYCP2	10388	broad.mit.edu	37	20	58450495	58450495	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:58450495C>A	ENST00000357552.3	-	34	3405	c.3180G>T	c.(3178-3180)acG>acT	p.T1060T	SYCP2_ENST00000371001.2_Silent_p.T1060T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1060					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTAGCTTTACCGTTTTCATTC	0.308000													9	32					0.0167234	0.0171544	0.435327	1	0
FN1	2335	broad.mit.edu	37	2	216269167	216269167	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:216269167G>T	ENST00000354785.4	-	20	3567	c.3198C>A	c.(3196-3198)ctC>ctA	p.L1066L	FN1_ENST00000446046.1_Silent_p.L1066L|FN1_ENST00000443816.1_Silent_p.L1066L|FN1_ENST00000323926.6_Silent_p.L1066L|FN1_ENST00000432072.2_Silent_p.L1066L|FN1_ENST00000359671.1_Silent_p.L1066L|FN1_ENST00000357867.4_Silent_p.L1066L|FN1_ENST00000357009.2_Silent_p.L1066L|FN1_ENST00000356005.4_Silent_p.L1066L|FN1_ENST00000346544.3_Silent_p.L1066L|FN1_ENST00000345488.5_Silent_p.L1066L|FN1_ENST00000336916.4_Silent_p.L1066L|FN1_ENST00000421182.1_Silent_p.L1066L			P02751	FINC_HUMAN	fibronectin 1	1066	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTATGGCCACGAGGGATACGG	0.488000													18	81					7.87624e-14	1.13991e-13	0.639603	1	0
PKHD1	5314	broad.mit.edu	37	6	51640627	51640627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:51640627G>T	ENST00000371117.3	-	54	8808	c.8533C>A	c.(8533-8535)Cat>Aat	p.H2845N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H2845N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2845	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTCAATATGAATTCCATTC	0.343000													15	58					3.62473e-10	4.66121e-10	0.608945	1	0
MUC17	140453	broad.mit.edu	37	7	100678307	100678307	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:100678307G>T	ENST00000306151.4	+	3	3674	c.3610G>T	c.(3610-3612)Gct>Tct	p.A1204S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1204	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTCCAACTGCTGAAGTTAC	0.517000													96	319					7.73176e-47	1.53097e-46	0.870114	1	0
TIE1	7075	broad.mit.edu	37	1	43774689	43774689	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:43774689G>T	ENST00000372476.3	+	8	1154	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	TIE1_ENST00000433781.2_Nonsense_Mutation_p.E4*|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	359					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGGCCTCAGAACTGGAGTT	0.612000													25	89					6.38683e-12	8.78051e-12	0.729181	1	0
COBL	23242	broad.mit.edu	37	7	51251816	51251816	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:51251816T>A	ENST00000395542.2	-	5	950	c.766A>T	c.(766-768)Aaa>Taa	p.K256*	COBL_ENST00000395540.2_Nonsense_Mutation_p.K256*|COBL_ENST00000441453.1_Nonsense_Mutation_p.K256*|COBL_ENST00000265136.7_Nonsense_Mutation_p.K256*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	256										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGCTTCTTTTATTAACTTTG	0.294000													4	2					0	0	0.217242	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678601	37678601	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:37678601C>T	ENST00000379800.3	-	1	1202	c.793G>A	c.(793-795)Ggg>Agg	p.G265R		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	265	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAGCGCAGCCCACGACAGTAG	0.428000													33	73					0	0	0.796494	0	0
MDGA2	161357	broad.mit.edu	37	14	47324346	47324346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:47324346C>A	ENST00000426342.1	-	15	2616	c.1870G>T	c.(1870-1872)Gtt>Ttt	p.V624F	MDGA2_ENST00000357362.3_Missense_Mutation_p.V624F|MDGA2_ENST00000399232.2_Missense_Mutation_p.V922F|MDGA2_ENST00000399222.3_Missense_Mutation_p.V55F|MDGA2_ENST00000439988.2_Missense_Mutation_p.V853F	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	853	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CGTAGATAAACATTTAAGACA	0.303000													14	37					9.16793e-09	1.12618e-08	0.520397	1	0
JPH2	57158	broad.mit.edu	37	20	42747205	42747205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:42747205G>A	ENST00000372980.3	-	3	2100	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	410					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGGACTCCTGGTTGGCAGCC	0.612000													53	175					0	0	0.870114	0	0
FAM19A3	284467	broad.mit.edu	37	1	113264875	113264875	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:113264875G>A	ENST00000369630.3	+	2	237	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	FAM19A3_ENST00000361886.3_Missense_Mutation_p.R7Q			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	7						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGTCGAGCGGAACTGGAGC	0.637000													63	184					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	215848937	215848937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:215848937C>A	ENST00000366943.2	-	63	12702	c.12316G>T	c.(12316-12318)Ggg>Tgg	p.G4106W	USH2A_ENST00000307340.3_Missense_Mutation_p.G4106W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4106	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G4106R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAGGAACCCGTCACTGAAG	0.473000										HNSCC(13;0.011)			9	37					9.70103e-10	1.23158e-09	0.361761	1	0
PEG3	5178	broad.mit.edu	37	19	57326711	57326711	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:57326711A>T	ENST00000326441.9	-	10	3462	c.3099T>A	c.(3097-3099)tgT>tgA	p.C1033*	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.C907*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.C909*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.C1033*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1033					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAAGTCCTTACATTTGTTCC	0.468000													4	12					0	0	0.150653	0	0
CDH10	1008	broad.mit.edu	37	5	24593439	24593439	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:24593439C>T	ENST00000264463.4	-	2	668	c.161G>A	c.(160-162)cGt>cAt	p.R54H	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	54					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)		CATCCAACCACGTTTTTGACG	0.393000										HNSCC(23;0.051)			28	128					0	0	0.804634	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550426	2550426	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:2550426A>G	ENST00000567020.1	+	6	1582	c.1442A>G	c.(1441-1443)cAc>cGc	p.H481R	TBC1D24_ENST00000293970.5_Missense_Mutation_p.H487R|TBC1D24_ENST00000434757.2_Missense_Mutation_p.H487R|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	487	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCCGCTCGCCACTTCAACCTG	0.687000													7	26					0	0	0.307466	0	0
MAEL	84944	broad.mit.edu	37	1	166959054	166959054	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:166959054C>T	ENST00000367872.4	+	2	457	c.213C>T	c.(211-213)ccC>ccT	p.P71P	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	71					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACCCTGGGCCCTCAGAGAAGC	0.512000													5	18					0	0	0.217242	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067007	46067007	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:46067007C>A	ENST00000334670.8	+	1	677	c.632C>A	c.(631-633)gCt>gAt	p.A211D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	205	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TGCTCTAGGGCTTCCTCTTCA	0.632000													127	218					9.978e-56	1.9956e-55	0.870114	1	0
IGSF21	84966	broad.mit.edu	37	1	18691805	18691805	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:18691805G>T	ENST00000251296.1	+	6	1012	c.629G>T	c.(628-630)aGg>aTg	p.R210M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	210						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAGGACAGCAGGCCCTTCCGC	0.602000													7	39					0.0381472	0.0388302	0.278610	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755826	140755826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140755826C>A	ENST00000517434.1	+	1	2176	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCTGCTGCAGGCTTCGGG	0.652000													27	45					4.7796e-09	5.98202e-09	0.681144	1	0
AR	367	broad.mit.edu	37	X	66788864	66788864	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:66788864G>T	ENST00000396043.2	+	1	134	c.20_splice	c.e1+1	p.S7_splice	AR_ENST00000374690.3_Intron|AR_ENST00000396044.3_Intron|AR_ENST00000504326.1_Intron|AR_ENST00000513847.1_Intron	NM_001011645.2	NP_001011645.1	P10275	ANDR_HUMAN	androgen receptor	0	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGGCTTCACAGGTGGGAGGTT	0.453000									Androgen Insensitivity Syndrome				28	44					1.22384e-17	1.91766e-17	0.769981	1	0
FAT3	120114	broad.mit.edu	37	11	92532887	92532887	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:92532887C>T	ENST00000298047.6	+	9	6725	c.6708C>T	c.(6706-6708)gaC>gaT	p.D2236D	FAT3_ENST00000525166.1_Silent_p.D2086D|FAT3_ENST00000409404.2_Silent_p.D2236D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2236	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGACTTTGACACTGGGGTCC	0.458000										TCGA Ovarian(4;0.039)			4	15					0	0	0.150653	0	0
HOXD3	3232	broad.mit.edu	37	2	177034278	177034278	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:177034278G>A	ENST00000468418.3	+	3	2526	c.436G>A	c.(436-438)Ggg>Agg	p.G146R	HOXD3_ENST00000249440.3_Missense_Mutation_p.G146R|HOXD3_ENST00000410016.1_Missense_Mutation_p.G146R			P31249	HXD3_HUMAN	homeobox D3	146					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCCAAAGGTGGGCCCAATGC	0.587000													40	108					0	0	0.870114	0	0
CCL19	6363	broad.mit.edu	37	9	34691127	34691127	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:34691127G>T	ENST00000311925.2	-	1	147	c.10C>A	c.(10-12)Cta>Ata	p.L4I	CCL19_ENST00000378800.3_Missense_Mutation_p.L4I	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	chemokine (C-C motif) ligand 19	4					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGGGCCAGTAGCAGGGCCATG	0.617000													8	22					1.58986e-06	1.83145e-06	0.361761	1	0
TTN	7273	broad.mit.edu	37	2	179659794	179659794	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:179659794G>A	ENST00000589042.1	-	7	1324	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	TTN_ENST00000342992.6_Missense_Mutation_p.S367F|TTN_ENST00000591111.1_Missense_Mutation_p.S367F|TTN_ENST00000342175.6_Missense_Mutation_p.S367F|TTN_ENST00000460472.2_Missense_Mutation_p.S367F|TTN_ENST00000360870.5_Missense_Mutation_p.S367F|TTN_ENST00000359218.5_Missense_Mutation_p.S367F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	367							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)			GATCTGAGTAGAGGTTGTCAG	0.592000													20	57					0	0	0.681144	0	0
TP53	7157	broad.mit.edu	37	17	7573982	7573982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:7573982C>A	ENST00000269305.4	-	10	1234	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E349*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	349	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> D (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.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(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)		TCCTTGAGTTCCAAGGCCTCA	0.597000		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)			16	18					0.0496948	0.0504554	0.575678	1	0
NPAS3	64067	broad.mit.edu	37	14	34269576	34269576	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:34269576C>T	ENST00000346562.2	+	11	2041	c.1967C>T	c.(1966-1968)tCt>tTt	p.S656F	NPAS3_ENST00000551492.1_Missense_Mutation_p.S693F|NPAS3_ENST00000548645.1_Missense_Mutation_p.S658F|NPAS3_ENST00000357798.5_Missense_Mutation_p.S675F|NPAS3_ENST00000356141.4_Missense_Mutation_p.S688F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCCCCAGCTCTGAGCACTTC	0.687000													44	122					0	0	0.870114	0	0
CTNND2	1501	broad.mit.edu	37	5	11346646	11346646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:11346646G>A	ENST00000304623.8	-	9	1655	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CTNND2_ENST00000511377.1_Missense_Mutation_p.A398V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A152V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A56V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A489V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	489					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCATAGCTGGCCCTCTGGAA	0.647000													33	59					0	0	0.788014	0	0
C11orf63	79864	broad.mit.edu	37	11	122795677	122795677	+	Missense_Mutation	SNP	G	G	T	rs147977667	by1000genomes	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:122795677G>T	ENST00000227349.2	+	4	1234	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	C11orf63_ENST00000531316.1_Missense_Mutation_p.D313Y	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	313										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TGCTGCCATCGATCCTGAAGA	0.403000													26	92					1.32181e-22	2.24821e-22	0.717897	1	0
LRP1B	53353	broad.mit.edu	37	2	141116459	141116459	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:141116459G>A	ENST00000389484.3	-	73	12159	c.11188C>T	c.(11188-11190)Cta>Tta	p.L3730L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3730	LDL-receptor class A 31.				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)		TCCGACTGTAGGCATATTCTG	0.383000										TSP Lung(27;0.18)			59	124					0	0	0.870114	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214780	3214780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:3214780G>T	ENST00000380059.3	-	5	702	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	SLC4A11_ENST00000380056.3_Missense_Mutation_p.L174M|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.L158M	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	174					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCATGAGCAGGTCCAGGTTG	0.662000													30	140					8.73648e-17	1.34511e-16	0.796494	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135113540	135113540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:135113540C>A	ENST00000368563.2	-	3	584	c.228G>T	c.(226-228)agG>agT	p.R76S	TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R76S|TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.R76S	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	76					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTCAAGGTTCCTTGTATTTT	0.458000													18	42					5.3912e-06	6.09574e-06	0.539581	1	0
TNS3	64759	broad.mit.edu	37	7	47408829	47408829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:47408829C>A	ENST00000398879.1	-	17	1780	c.1414G>T	c.(1414-1416)Gat>Tat	p.D472Y	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.D472Y			Q68CZ2	TENS3_HUMAN	tensin 3	472						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTCTCCCGATCCTTCAGAGCA	0.597000													14	32					3.45872e-05	3.8238e-05	0.500413	1	0
EPAS1	2034	broad.mit.edu	37	2	46574056	46574056	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:46574056G>T	ENST00000263734.3	+	2	581	c.71G>T	c.(70-72)cGg>cTg	p.R24L	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	24					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GATGCTGCGCGGTGCCGGCGG	0.587000													19	45					1.08312e-15	1.61757e-15	0.740014	1	0
XIRP2	129446	broad.mit.edu	37	2	167760103	167760103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:167760103G>T	ENST00000409195.1	+	2	200	c.111G>T	c.(109-111)caG>caT	p.Q37H	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q37H|XIRP2_ENST00000409043.1_Missense_Mutation_p.Q37H|XIRP2_ENST00000420519.1_Missense_Mutation_p.Q37H|XIRP2_ENST00000409728.1_Missense_Mutation_p.Q37H|XIRP2_ENST00000409756.2_Missense_Mutation_p.Q37H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.Q37_P38>HS(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATTTTCCAGCCTCAGGAAA	0.493000													12	48					4.3838e-07	5.13163e-07	0.435327	1	0
PCDH18	54510	broad.mit.edu	37	4	138453117	138453117	+	Silent	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:138453117T>G	ENST00000344876.4	-	1	512	c.126A>C	c.(124-126)tcA>tcC	p.S42S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S42S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	42	Cadherin 1.				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)					TTGCAATTACTGATCCAACCC	0.403000													16	68					0	0	0.520397	0	0
ROR1	4919	broad.mit.edu	37	1	64605916	64605916	+	Silent	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:64605916T>C	ENST00000371079.1	+	6	1110	c.735T>C	c.(733-735)cgT>cgC	p.R245R	ROR1_ENST00000371080.1_Silent_p.R245R|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	245	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAAAGCCCCGTGACTTGTGTC	0.468000													21	104					0	0	0.706142	0	0
BBX	56987	broad.mit.edu	37	3	107447683	107447683	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:107447683C>A	ENST00000415149.2	+	6	804	c.477C>A	c.(475-477)tcC>tcA	p.S159S	BBX_ENST00000406780.1_Silent_p.S159S|BBX_ENST00000325805.8_Silent_p.S159S|BBX_ENST00000402543.1_Silent_p.S159S|BBX_ENST00000416476.2_Silent_p.S159S	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGTGAAATCCCCAACACCCA	0.428000													103	118					1.21591e-56	2.43796e-56	0.870114	1	0
OR5L1	219437	broad.mit.edu	37	11	55579547	55579547	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:55579547T>A	ENST00000333973.2	+	1	694	c.605T>A	c.(604-606)gTg>gAg	p.V202E		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGTTCCTGGTGGCCACTTTG	0.458000													59	189					0	0	0.870114	0	0
NCAM2	4685	broad.mit.edu	37	21	22906904	22906904	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:22906904G>A	ENST00000400546.1	+	17	2578	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E635K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	777					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACAGAGGATGAAAGAGTTAC	0.398000													14	35					0	0	0.479597	0	0
RYR2	6262	broad.mit.edu	37	1	237813176	237813176	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:237813176G>T	ENST00000366574.2	+	50	7829		c.e50-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTTTTTCAGGCAGCTTTGA	0.453000													23	105					1.99505e-19	3.24094e-19	0.760397	1	0
C15orf41	84529	broad.mit.edu	37	15	37001439	37001439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:37001439G>T	ENST00000566621.1	+	9	810	c.560G>T	c.(559-561)cGt>cTt	p.R187L	C15orf41_ENST00000562877.1_Missense_Mutation_p.R89L|C15orf41_ENST00000569302.1_Missense_Mutation_p.R187L|C15orf41_ENST00000338183.4_Missense_Mutation_p.R89L|C15orf41_ENST00000567389.1_Missense_Mutation_p.R89L|C15orf41_ENST00000562489.1_Missense_Mutation_p.R11L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000437989.2_Missense_Mutation_p.R187L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	187							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GATCAGCTTCGTGCAAAGGGT	0.299000													10	24					0.000219431	0.000236037	0.457914	1	0
OSBPL3	26031	broad.mit.edu	37	7	24846498	24846498	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:24846498G>C	ENST00000313367.2	-	21	2792	c.2341C>G	c.(2341-2343)Caa>Gaa	p.Q781E	OSBPL3_ENST00000352860.1_Missense_Mutation_p.Q750E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.Q750E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.Q714E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.Q745E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.Q745E|OSBPL3_ENST00000409069.1_Missense_Mutation_p.Q714E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	781					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTATAGTATTGCTCGTAGCCT	0.383000													24	82					0	0	0.729181	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86350282	86350282	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:86350282C>A	ENST00000355238.6	-	3	355	c.148_splice	c.e3-1	p.G50_splice	SYNCRIP_ENST00000369622.3_Splice_Site_p.G50_splice	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	50					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGCAACTAGCCCTGAAAAAAA	0.318000													5	12					0.0215528	0.0220514	0.217242	1	0
ACTG2	72	broad.mit.edu	37	2	74143790	74143790	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:74143790T>A	ENST00000409624.1	+	9	1528	c.885T>A	c.(883-885)taT>taA	p.Y295*	ACTG2_ENST00000409731.3_Nonsense_Mutation_p.Y252*|ACTG2_ENST00000345517.3_Nonsense_Mutation_p.Y295*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	295					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGACTTATATGCCAACAATG	0.507000													11	73					0	0	0.387290	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72493775	72493775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:72493775G>T	ENST00000373208.1	+	8	1352	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R448L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	448	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R451L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGCTCAGCCGCTACCTCCCG	0.637000													21	101					3.08376e-08	3.75333e-08	0.654019	1	0
SLN	6588	broad.mit.edu	37	11	107578574	107578574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:107578574G>A	ENST00000531293.1	-	3	435	c.83C>T	c.(82-84)tCc>tTc	p.S28F	SLN_ENST00000305991.2_Missense_Mutation_p.S28F|SLN_ENST00000525934.1_Missense_Mutation_p.S28F			O00631	SARCO_HUMAN	sarcolipin	28					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity			large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		GTACTGATAGGACCTCACAAG	0.512000													16	43					0	0	0.608945	0	0
DEFB131	644414	broad.mit.edu	37	4	9452190	9452190	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:9452190A>T	ENST00000334879.1	+	2	163	c.163A>T	c.(163-165)Atc>Ttc	p.I55F		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	55					defense response to bacterium	extracellular region				lung(2)	2						TGACTTCAGCATCTGCTGCAA	0.373000													17	25					0	0	0.592651	0	0
GRID2	2895	broad.mit.edu	37	4	94693449	94693449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:94693449C>A	ENST00000282020.4	+	16	3082	c.2824C>A	c.(2824-2826)Cgc>Agc	p.R942S	GRID2_ENST00000510992.1_Missense_Mutation_p.R847S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GACTCTTAGCCGCACACTGTC	0.493000													16	62					3.41278e-10	4.40288e-10	0.520397	1	0
HEPHL1	341208	broad.mit.edu	37	11	93844084	93844084	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:93844084C>A	ENST00000315765.9	+	18	3069	c.3061C>A	c.(3061-3063)Cga>Aga	p.R1021R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1021	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAAATCTTACCGAGAAGATGT	0.398000													13	21					1.52009e-12	2.13027e-12	0.479597	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70585385	70585385	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:70585385C>A	ENST00000260126.3	-	10	2972	c.2266G>T	c.(2266-2268)Gcc>Tcc	p.A756S	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A701S|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	756						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGTACCAGGCCAGAAAAATA	0.498000													16	61					3.32936e-07	3.90305e-07	0.539581	1	0
AACS	65985	broad.mit.edu	37	12	125626690	125626690	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:125626690G>T	ENST00000545511.1	+	7	5457	c.470G>T	c.(469-471)gGa>gTa	p.G157V	AACS_ENST00000543665.1_Missense_Mutation_p.G77V|AACS_ENST00000316543.10_Missense_Mutation_p.G243V|AACS_ENST00000316519.6_Missense_Mutation_p.G645V|AACS_ENST00000261686.6_Missense_Mutation_p.W577C			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	645					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATCATCGCTGGAAAAGCCGTG	0.542000													31	45					2.85442e-18	4.53516e-18	0.750413	1	0
KIAA0100	9703	broad.mit.edu	37	17	26958649	26958649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:26958649C>A	ENST00000528896.2	-	23	4221	c.4147G>T	c.(4147-4149)Gtg>Ttg	p.V1383L	KIAA0100_ENST00000389003.3_Missense_Mutation_p.V1240L|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V1240L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1383						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGTCACTCACCATCTGGGTA	0.512000													14	42					1.05317e-09	1.33279e-09	0.457914	1	0
PEX5	5830	broad.mit.edu	37	12	7362677	7362677	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:7362677G>A	ENST00000266563.5	+	15	1850	c.1667G>A	c.(1666-1668)cGg>cAg	p.R556Q	PEX5_ENST00000266564.3_Missense_Mutation_p.R585Q|PEX5_ENST00000412720.2_Missense_Mutation_p.R614Q|PEX5_ENST00000420616.2_Missense_Mutation_p.R593Q|PEX5_ENST00000434354.2_Missense_Mutation_p.R608Q|PEX5_ENST00000455147.2_Missense_Mutation_p.R593Q	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	593					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CGGGGCCCCCGGGGTGAAGGA	0.582000													9	36					0	0	0.335167	0	0
C6	729	broad.mit.edu	37	5	41199958	41199958	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:41199958C>T	ENST00000263413.3	-	4	621	c.357G>A	c.(355-357)gcG>gcA	p.A119A	C6_ENST00000337836.5_Silent_p.A119A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	119	TSP type-1 2.		A -> E (in allotype C6 A; dbSNP:rs1801033).		complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTACCAGAGGCGCAGTGCATG	0.443000													27	60					0	0	0.717897	0	0
NRG3	10718	broad.mit.edu	37	10	84744946	84744946	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:84744946A>T	ENST00000372142.2	+	11	1359	c.1085A>T	c.(1084-1086)gAg>gTg	p.E362V	NRG3_ENST00000556918.1_Missense_Mutation_p.E389V|NRG3_ENST00000404576.2_Missense_Mutation_p.E363V|NRG3_ENST00000537893.1_Missense_Mutation_p.E209V|NRG3_ENST00000404547.1_Missense_Mutation_p.E583V|NRG3_ENST00000372141.2_Missense_Mutation_p.E559V|NRG3_ENST00000545131.1_Missense_Mutation_p.E209V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	583					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATAGCTTGGAGCAAAAGGAC	0.438000													43	177					0	0	0.870114	0	0
PCSK2	5126	broad.mit.edu	37	20	17462642	17462642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:17462642A>G	ENST00000262545.2	+	12	2159	c.1844A>G	c.(1843-1845)aAg>aGg	p.K615R	PCSK2_ENST00000536609.1_Missense_Mutation_p.K580R|PCSK2_ENST00000377899.1_Missense_Mutation_p.K596R|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	615					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCATGTCCAAGAAAGAGGAG	0.577000													8	23					0	0	0.307466	0	0
OR4D5	219875	broad.mit.edu	37	11	123810870	123810870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:123810870C>T	ENST00000307033.2	+	1	621	c.547C>T	c.(547-549)Cag>Tag	p.Q183*		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGATGTGCCTCAGCTGATCAA	0.483000													24	103					0	0	0.706142	0	0
TBX2	6909	broad.mit.edu	37	17	59485425	59485425	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:59485425T>G	ENST00000240328.3	+	7	1978	c.1697T>G	c.(1696-1698)aTg>aGg	p.M566R	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	566					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GGAATTCCAATGCCCACTTTC	0.597000													16	69					0	0	0.654019	0	0
CUX1	1523	broad.mit.edu	37	7	101559416	101559416	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:101559416A>G	ENST00000360264.3	+	2	105	c.85A>G	c.(85-87)Acg>Gcg	p.T29A	CUX1_ENST00000556210.1_Missense_Mutation_p.T18A|CUX1_ENST00000425244.2_Missense_Mutation_p.T29A|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Missense_Mutation_p.T18A|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.T18A|CUX1_ENST00000546411.2_Missense_Mutation_p.T18A|CUX1_ENST00000547394.2_Missense_Mutation_p.T29A|CUX1_ENST00000437600.4_Missense_Mutation_p.T29A|CUX1_ENST00000292538.4_Missense_Mutation_p.T29A|CUX1_ENST00000292535.7_Missense_Mutation_p.T18A	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	18					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCACCGCAACGGTATTGGC	0.507000													76	279					0	0	0.870114	0	0
OR10W1	81341	broad.mit.edu	37	11	58035099	58035099	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:58035099G>T	ENST00000395079.2	-	1	633	c.232C>A	c.(232-234)Cag>Aag	p.Q78K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TTCTCTGACTGTAGGGTGTTG	0.527000													23	53					1.77063e-15	2.63444e-15	0.693898	1	0
BTAF1	9044	broad.mit.edu	37	10	93713629	93713629	+	Splice_Site	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:93713629A>T	ENST00000265990.6	+	6	1008	c.701_splice	c.e6+1	p.S234_splice		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	234					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAATGAGAAGAGGTAGTAATC	0.373000													24	63					0	0	0.740014	0	0
FOXE1	2304	broad.mit.edu	37	9	100617241	100617241	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:100617241G>C	ENST00000375123.3	+	1	1706	c.1045G>C	c.(1045-1047)Gcc>Ccc	p.A349P		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	349					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCTCGGAGGGGCCAGTGCAGG	0.667000													7	21					0	0	0.335167	0	0
RPP14	11102	broad.mit.edu	37	3	58296074	58296074	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:58296074C>T	ENST00000445193.2	+	2	429	c.18C>T	c.(16-18)gcC>gcT	p.A6A	RPP14_ENST00000544156.1_5'UTR|RPP14_ENST00000477305.1_Intron|RPP14_ENST00000466547.1_Silent_p.A6A|RPP14_ENST00000295959.5_Silent_p.A6A	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	6					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		CCCCTGCTGCCACATATGAAA	0.398000													31	43					0	0	0.834066	0	0
CENPE	1062	broad.mit.edu	37	4	104066373	104066373	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:104066373A>G	ENST00000265148.3	-	32	4780	c.4691T>C	c.(4690-4692)cTa>cCa	p.L1564P	CENPE_ENST00000380026.3_Missense_Mutation_p.L1539P	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1564					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TATACTTTGTAGTGCTGAATC	0.328000													3	59					0	0	0.115264	0	0
OR13A1	79290	broad.mit.edu	37	10	45799375	45799375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:45799375C>A	ENST00000553795.1	-	4	804	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L	OR13A1_ENST00000536058.1_Missense_Mutation_p.V166L|OR13A1_ENST00000374401.2_Missense_Mutation_p.V166L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCAGCCACACGGCTGTGGCC	0.597000													14	82					6.94344e-10	8.82904e-10	0.539581	1	0
COL14A1	7373	broad.mit.edu	37	8	121219212	121219212	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:121219212C>A	ENST00000297848.3	+	10	1340	c.1070C>A	c.(1069-1071)aCg>aAg	p.T357K	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.T357K|COL14A1_ENST00000309791.4_Missense_Mutation_p.T357K|COL14A1_ENST00000247781.3_Missense_Mutation_p.T262K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	357	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGCCGCCTACGGAGTTGATT	0.403000													15	50					0.00121646	0.00127576	0.575678	1	0
CACNA1G	8913	broad.mit.edu	37	17	48677149	48677149	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:48677149C>A	ENST00000352832.5	+	16	3922	c.3550C>A	c.(3550-3552)Cgc>Agc	p.R1184S	CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1207S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1184S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1207S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1184S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1184S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1207S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1207S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1184S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1184S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1184S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1207S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1207S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1184S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1207					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCTTCAGGGCGCCTGGCCCG	0.677000													10	13					0.0135373	0.0139581	0.411799	1	0
DNASE1L3	1776	broad.mit.edu	37	3	58193943	58193943	+	Splice_Site	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:58193943A>T	ENST00000483681.1	-	4	812		c.e4+1		DNASE1L3_ENST00000394549.2_Splice_Site|DNASE1L3_ENST00000318316.3_Splice_Site|DNASE1L3_ENST00000486455.1_Splice_Site			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3						apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCCCATGTTACCTGTTCAGC	0.502000													45	90					0	0	0.870114	0	0
ATP2A3	489	broad.mit.edu	37	17	3840746	3840746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:3840746C>A	ENST00000309890.7	-	15	2435	c.2285G>T	c.(2284-2286)cGc>cTc	p.R762L	ATP2A3_ENST00000352011.3_Missense_Mutation_p.R762L|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R762L|ATP2A3_ENST00000397041.3_Missense_Mutation_p.R762L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R762L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R762L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	762					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GATGAGGTAGCGGATGAATTG	0.597000													16	35					1.22574e-08	1.50106e-08	0.624587	1	0
PDE1C	5137	broad.mit.edu	37	7	31918700	31918700	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:31918700G>T	ENST00000396184.3	-	5	538	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PDE1C_ENST00000396191.1_Silent_p.R112R|PDE1C_ENST00000321453.7_Silent_p.R112R|PDE1C_ENST00000396193.1_Silent_p.R172R|PDE1C_ENST00000396182.2_Silent_p.R112R	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	112					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCCATCTGCCGCGTGAAGGTG	0.557000													29	98					1.414e-09	1.78375e-09	0.788014	1	0
DMRTA1	63951	broad.mit.edu	37	9	22451709	22451709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:22451709G>T	ENST00000325870.1	+	2	1539	c.1314G>T	c.(1312-1314)agG>agT	p.R438S		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	438					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GTCCATTAAGGCTGGCATATT	0.433000													24	67					3.1745e-13	4.51232e-13	0.729181	1	0
KANSL1L	151050	broad.mit.edu	37	2	210969025	210969025	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:210969025C>A	ENST00000281772.9	-	4	1494	c.1230_splice	c.e4-1	p.G411_splice	KANSL1L_ENST00000452086.1_Splice_Site_p.G411_splice|KANSL1L_ENST00000418791.1_Splice_Site_p.G411_splice|KANSL1L_ENST00000457374.1_Splice_Site_p.G411_splice	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	411																	ACCACTATCCCCTAGACAAAA	0.348000													5	21					0.217242	0.218615	0.217242	1	0
SLC12A2	6558	broad.mit.edu	37	5	127514316	127514316	+	Missense_Mutation	SNP	G	G	T	rs115472345	by1000genomes	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:127514316G>T	ENST00000262461.2	+	22	3224	c.3035G>T	c.(3034-3036)aGt>aTt	p.S1012I	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.S996I	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1012					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTGAAGCTAGTACACAGTTT	0.303000													17	18					3.62473e-10	4.66121e-10	0.608945	1	0
SF3B1	23451	broad.mit.edu	37	2	198273136	198273136	+	Silent	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:198273136T>C	ENST00000335508.5	-	8	1165	c.1074A>G	c.(1072-1074)acA>acG	p.T358T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	358	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCCAATTGGTGTCTTTCCAG	0.438000			Mis		myelodysplastic syndrome								23	91					0	0	0.769981	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350405	76350405	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:76350405C>A	ENST00000307431.8	+	3	563	c.178C>A	c.(178-180)Ctg>Atg	p.L60M	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L36M|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L64M|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L60M	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	61	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L36M(2)|p.L60M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATTTGCAAGGCTGAATAGAAG	0.448000													12	39					9.05144e-12	1.23161e-11	0.435327	1	0
MARCH10	162333	broad.mit.edu	37	17	60814344	60814344	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:60814344G>A	ENST00000544856.2	-	7	1260	c.882C>T	c.(880-882)acC>acT	p.T294T	MARCH10_ENST00000456609.2_Silent_p.T295T|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Silent_p.T295T|MARCH10_ENST00000583600.1_Silent_p.T333T			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	295							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTTCAGACTGGGTTTCCTCTT	0.473000													154	393					0	0	0.870114	0	0
GRIK4	2900	broad.mit.edu	37	11	120732789	120732789	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:120732789G>T	ENST00000527524.2	+	9	1153	c.866G>T	c.(865-867)tGg>tTg	p.W289L	GRIK4_ENST00000438375.2_Missense_Mutation_p.W289L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	289					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AACCAGTCCTGGCAGGAGAAC	0.552000													96	329					7.97055e-49	1.58218e-48	0.870114	1	0
CYFIP1	23191	broad.mit.edu	37	15	22958289	22958289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:22958289G>T	ENST00000313077.7	+	17	2057	c.1932G>T	c.(1930-1932)atG>atT	p.M644I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.M644I|CYFIP1_ENST00000435939.2_Missense_Mutation_p.M213I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	644					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGATGTCGATGCCCTGGATCC	0.597000													22	31					1.75199e-13	2.49925e-13	0.717897	1	0
SOX3	6658	broad.mit.edu	37	X	139586876	139586876	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:139586876G>C	ENST00000370536.2	-	1	349	c.350C>G	c.(349-351)gCg>gGg	p.A117G		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	117					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCCGAGTTCGCGCCGCCGGC	0.706000													6	6					0	0	0.248553	0	0
A2ML1	144568	broad.mit.edu	37	12	9020543	9020543	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:9020543A>G	ENST00000299698.7	+	30	4003	c.3823A>G	c.(3823-3825)Aca>Gca	p.T1275A	A2ML1_ENST00000539547.1_Missense_Mutation_p.T784A	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1119						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCCAGCGCACATTCAACAT	0.488000													56	59					0	0	0.870114	0	0
CNGB3	54714	broad.mit.edu	37	8	87679167	87679167	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:87679167C>T	ENST00000320005.5	-	6	885	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	280					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGTCTCCTCCTCTTACAAAC	0.383000													40	47					0	0	0.870114	0	0
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562000													52	162					2.36135e-34	4.51836e-34	0.870114	1	0
LHX8	431707	broad.mit.edu	37	1	75622603	75622603	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:75622603G>A	ENST00000294638.5	+	9	1500	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LHX8_ENST00000356261.3_Missense_Mutation_p.R269H	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	279						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGTAGAGCACGCCACAAGAAA	0.478000													50	194					0	0	0.870114	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883385	228883385	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:228883385G>T	ENST00000392056.3	-	7	2231	c.2185C>A	c.(2185-2187)Cgg>Agg	p.R729R	SPHKAP_ENST00000344657.5_Silent_p.R729R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	729						cytoplasm	protein binding	p.R729W(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCACCAAGCCGTACAATATGA	0.453000													42	142					2.43139e-17	3.78745e-17	0.870114	1	0
KMT2A	4297	broad.mit.edu	37	11	118352634	118352634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:118352634G>T	ENST00000534358.1	+	7	3862	c.3839G>T	c.(3838-3840)gGg>gTg	p.G1280V	KMT2A_ENST00000389506.5_Missense_Mutation_p.G1280V|KMT2A_ENST00000354520.4_Missense_Mutation_p.G1280V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCGGCCCCTGGGCCTGAATCC	0.572000													28	89					3.62531e-18	5.72568e-18	0.796494	1	0
ABCG2	9429	broad.mit.edu	37	4	89034588	89034588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:89034588C>A	ENST00000237612.3	-	9	1606	c.1061G>T	c.(1060-1062)gGg>gTg	p.G354V	ABCG2_ENST00000515655.1_Missense_Mutation_p.G354V	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	354					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTTCTCACCCCCGGAAAGTTG	0.428000													29	154					7.53189e-24	1.30618e-23	0.834066	1	0
RAD9B	144715	broad.mit.edu	37	12	110944402	110944402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:110944402A>G	ENST00000409246.1	+	4	401	c.76A>G	c.(76-78)Aga>Gga	p.R26G	RAD9B_ENST00000409425.1_Missense_Mutation_p.R26G|RAD9B_ENST00000392672.4_Missense_Mutation_p.R98G|RAD9B_ENST00000433301.1_3'UTR|RAD9B_ENST00000409300.1_Missense_Mutation_p.R98G|RAD9B_ENST00000409778.3_Missense_Mutation_p.R98G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	95					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCCATCTTTAGATGTCTGAA	0.303000													35	62					0	0	0.827153	0	0
OR11L1	391189	broad.mit.edu	37	1	248004999	248004999	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:248004999G>T	ENST00000355784.2	-	1	255	c.200C>A	c.(199-201)tCc>tAc	p.S67Y		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCCAGAAAGGAGAGATGCTG	0.562000													9	27					1.76689e-08	2.15713e-08	0.335167	1	0
NAV3	89795	broad.mit.edu	37	12	78225315	78225315	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:78225315C>T	ENST00000397909.2	+	1	247	c.74C>T	c.(73-75)cCg>cTg	p.P25L	NAV3_ENST00000228327.6_Missense_Mutation_p.P25L|NAV3_ENST00000266692.7_Missense_Mutation_p.P25L|NAV3_ENST00000536525.2_Missense_Mutation_p.P25L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	25						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTCTTCCGATACCAAAT	0.468000										HNSCC(70;0.22)			45	76					0	0	0.870114	0	0
BTBD9	114781	broad.mit.edu	37	6	38560592	38560592	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:38560592T>A	ENST00000481247.1	-	4	725	c.574A>T	c.(574-576)Aga>Tga	p.R192*	BTBD9_ENST00000403056.1_Nonsense_Mutation_p.R192*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.R124*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.R124*|BTBD9_ENST00000419706.2_Nonsense_Mutation_p.R133*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	192	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AATGAGTCTCTTAACACGATG	0.368000													17	19					0	0	0.608945	0	0
TNPO3	23534	broad.mit.edu	37	7	128645131	128645131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:128645131C>A	ENST00000393245.1	-	5	1008	c.635G>T	c.(634-636)gGa>gTa	p.G212V	TNPO3_ENST00000482320.1_Missense_Mutation_p.G146V|TNPO3_ENST00000471234.1_Missense_Mutation_p.G212V|TNPO3_ENST00000471166.1_Missense_Mutation_p.G212V|TNPO3_ENST00000265388.5_Missense_Mutation_p.G212V	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	212					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTCCAAAACTCCCAAGTTAAA	0.348000													31	85					3.11337e-16	4.72948e-16	0.769981	1	0
CDH8	1006	broad.mit.edu	37	16	61687978	61687978	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:61687978C>A	ENST00000577390.1	-	12	2888	c.1934G>T	c.(1933-1935)cGg>cTg	p.R645L	CDH8_ENST00000299345.6_Missense_Mutation_p.R645L|CDH8_ENST00000577730.1_Missense_Mutation_p.R645L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTATGCCGCCGTAGAGTTAC	0.383000													11	47					6.40141e-05	7.01863e-05	0.387290	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781306	128781306	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:128781306C>T	ENST00000529694.1	+	2	514	c.138C>T	c.(136-138)ggC>ggT	p.G46G	KCNJ5_ENST00000533599.1_Silent_p.G46G|KCNJ5_ENST00000338350.4_Silent_p.G46G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	46					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGGCCGAGGGCAAGAAGCCAC	0.592000													20	91					0	0	0.681144	0	0
CERS3	204219	broad.mit.edu	37	15	101041992	101041992	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:101041992C>G	ENST00000284382.4	-	4	486	c.63G>C	c.(61-63)aaG>aaC	p.K21N	CERS3_ENST00000394113.1_Missense_Mutation_p.K21N|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.K21N	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	21						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GATCTGACCACTTTATTGTTG	0.383000													18	59					0	0	0.639603	0	0
SPRTN	83932	broad.mit.edu	37	1	231474238	231474238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:231474238G>T	ENST00000391858.4	+	1	1389	c.109G>T	c.(109-111)Gag>Tag	p.E37*	SPRTN_ENST00000295050.7_Nonsense_Mutation_p.E37*|SPRTN_ENST00000008440.9_Nonsense_Mutation_p.E37*					SprT-like N-terminal domain																		CGCGTCGTGGGAGTTGGTGGA	0.597000													60	154					7.75977e-34	1.47417e-33	0.870114	1	0
SERPINE1	5054	broad.mit.edu	37	7	100780299	100780299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:100780299C>A	ENST00000223095.4	+	8	1262	c.1105C>A	c.(1105-1107)Cgc>Agc	p.R369S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGTCTCAGCCCGCATGGCCCC	0.577000													46	179					9.16383e-17	1.40819e-16	0.870114	1	0
TPO	7173	broad.mit.edu	37	2	1457592	1457592	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:1457592C>A	ENST00000345913.4	+	6	700	c.609C>A	c.(607-609)ccC>ccA	p.P203P	TPO_ENST00000382201.3_Silent_p.P203P|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.P203P|TPO_ENST00000329066.4_Silent_p.P203P|TPO_ENST00000337415.3_Silent_p.P203P|TPO_ENST00000349624.3_Silent_p.P203P|TPO_ENST00000382198.1_Silent_p.P203P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	203					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)	TCCCACTGCCCCCGGTGGGTA	0.587000													15	29					1.67942e-08	2.05348e-08	0.539581	1	0
DHX36	170506	broad.mit.edu	37	3	154042124	154042124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:154042124C>T	ENST00000496811.1	-	1	162	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	DHX36_ENST00000329463.5_Missense_Mutation_p.G28R|DHX36_ENST00000308361.6_Missense_Mutation_p.G28R|DHX36_ENST00000544526.1_Missense_Mutation_p.G28R	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	28	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCATGACCCCCTGCTGGCCCC	0.692000													10	11					0	0	0.411799	0	0
RGS6	9628	broad.mit.edu	37	14	72961919	72961919	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:72961919C>A	ENST00000553530.1	+	13	1121	c.914C>A	c.(913-915)cCa>cAa	p.P305Q	RGS6_ENST00000554782.1_Missense_Mutation_p.P166Q|RGS6_ENST00000555571.1_Missense_Mutation_p.P305Q|RGS6_ENST00000407322.4_Missense_Mutation_p.P305Q|RGS6_ENST00000553525.1_Missense_Mutation_p.P305Q|RGS6_ENST00000556437.1_Missense_Mutation_p.P305Q|RGS6_ENST00000404301.2_Missense_Mutation_p.P305Q|RGS6_ENST00000434263.2_Missense_Mutation_p.P236Q|RGS6_ENST00000406236.4_Missense_Mutation_p.P305Q|RGS6_ENST00000402788.2_Missense_Mutation_p.P305Q|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000355512.6_Missense_Mutation_p.P305Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	305	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAGCTGAGCCATCCAACCCT	0.438000													67	141					1.41191e-52	2.81673e-52	0.870114	1	0
BCL10	8915	broad.mit.edu	37	1	85733431	85733431	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:85733431C>A	ENST00000370580.1	-	3	1318	c.581G>T	c.(580-582)aGa>aTa	p.R194I		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	194					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTCCCCAGGTCTGGGAAGTGT	0.443000			T	IGH@	MALT								9	36					0.000673444	0.000708139	0.361761	1	0
HADHB	3032	broad.mit.edu	37	2	26502041	26502041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:26502041G>T	ENST00000317799.5	+	9	773	c.669G>T	c.(667-669)atG>atT	p.M223I	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.M201I|HADHB_ENST00000537713.1_Missense_Mutation_p.M208I|HADHB_ENST00000405867.3_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	223					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGACCATGGGCCACTCTG	0.547000													30	109					2.51541e-25	4.43962e-25	0.804634	1	0
KIF19	124602	broad.mit.edu	37	17	72349697	72349697	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:72349697C>T	ENST00000389916.4	+	17	2423	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	762					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGAACCTGTCGGAGATCCCC	0.592000													13	53					0	0	0.457914	0	0
TAF7L	54457	broad.mit.edu	37	X	100548013	100548013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:100548013C>A	ENST00000372907.3	-	1	32	c.21G>T	c.(19-21)caG>caT	p.Q7H	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	7					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAATGGGGAGCTGTCCCTCGG	0.483000													104	111					5.99808e-64	1.20873e-63	0.870114	1	0
SLC12A1	6557	broad.mit.edu	37	15	48537084	48537084	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:48537084C>A	ENST00000396577.3	+	11	1650	c.1435C>A	c.(1435-1437)Ctg>Atg	p.L479M	SLC12A1_ENST00000380993.3_Missense_Mutation_p.L479M|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L479M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	479					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCAGTACGGGCTGATGAACAA	0.388000													13	33					0.000422831	0.000449965	0.500413	1	0
MYOM2	9172	broad.mit.edu	37	8	2037848	2037848	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:2037848C>A	ENST00000262113.4	+	15	1803	c.1662C>A	c.(1660-1662)ggC>ggA	p.G554G	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	554	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGGGAGCGGCAGCTGGCAGA	0.557000													18	34					2.4624e-09	3.09647e-09	0.575678	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140801271	140801271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140801271G>T	ENST00000398587.2	+	1	510	c.477G>T	c.(475-477)agG>agT	p.R159S	PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R159S|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAATGCTAGGGATCCAGATG	0.517000													3	20					5.9392e-07	6.9117e-07	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179638773	179638773	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:179638773C>T	ENST00000589042.1	-	31	7346	c.7122G>A	c.(7120-7122)caG>caA	p.Q2374Q	TTN_ENST00000342992.6_Silent_p.Q2374Q|TTN_ENST00000591111.1_Silent_p.Q2374Q|TTN_ENST00000342175.6_Silent_p.Q2328Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.Q2328Q|TTN_ENST00000360870.5_Silent_p.Q2374Q|TTN_ENST00000359218.5_Silent_p.Q2328Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2096	Ig-like 13.						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)			TAACTTCAAGCTGAACAATGT	0.458000													26	79					0	0	0.740014	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988895	31988895	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:31988895A>G	ENST00000334664.2	+	1	146	c.122A>G	c.(121-123)tAc>tGc	p.Y41C		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	41						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						GGAAATGGCTACTACTGCCCA	0.463000													36	142					0	0	0.847076	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747568	7747568	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:7747568G>T	ENST00000317378.5	+	2	616	c.429G>T	c.(427-429)acG>acT	p.T143T	TRAPPC5_ENST00000426877.2_Silent_p.T143T|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Silent_p.T143T|TRAPPC5_ENST00000595985.1_Silent_p.T76T	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	143					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CCAGCTTCACGGCGGGCATCG	0.622000													16	20					1.96292e-10	2.55726e-10	0.592651	1	0
KNDC1	85442	broad.mit.edu	37	10	135002080	135002080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:135002080G>T	ENST00000304613.3	+	7	1385	c.1364G>T	c.(1363-1365)cGg>cTg	p.R455L	KNDC1_ENST00000368571.2_Missense_Mutation_p.R390L|KNDC1_ENST00000368572.2_Missense_Mutation_p.R455L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	455	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCTGGGCCGGCCCTTCCGG	0.706000													6	18					0.000157383	0.000169752	0.278610	1	0
DCST1	149095	broad.mit.edu	37	1	155018633	155018633	+	Silent	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:155018633T>A	ENST00000295542.1	+	12	1401	c.1305T>A	c.(1303-1305)gcT>gcA	p.A435A	DCST1_ENST00000368419.2_Silent_p.A435A|DCST1_ENST00000423025.2_Silent_p.A410A|DCST1_ENST00000392480.1_Silent_p.A435A	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	435						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCCGCAAAGCTGAGGAGAAAA	0.562000													22	100					0	0	0.693898	0	0
OR51F2	119694	broad.mit.edu	37	11	4843473	4843473	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:4843473C>A	ENST00000322110.5	+	1	923	c.858C>A	c.(856-858)gtC>gtA	p.V286V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCATTTGTCCACATCATCA	0.448000													32	108					6.45866e-13	9.0832e-13	0.840704	1	0
BAGE2	85319	broad.mit.edu	37	21	11039295	11039295	+	RNA	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:11039295C>A	ENST00000470054.1	-	0	908									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGTGTGTAACGACTTCAATG	0.388000													7	325					0.000151284	0.00016384	0.435327	1	0
SMPD3	55512	broad.mit.edu	37	16	68405406	68405406	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:68405406C>G	ENST00000219334.5	-	3	1282	c.679G>C	c.(679-681)Ggc>Cgc	p.G227R	SMPD3_ENST00000568373.1_Missense_Mutation_p.G227R|SMPD3_ENST00000563226.1_Missense_Mutation_p.G227R	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	227					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GAGGCTGGGCCGTTGGCAGCC	0.701000													5	11					0	0	0.307466	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677113	37677113	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:37677113G>A	ENST00000532828.2	-	5	1577	c.1326C>T	c.(1324-1326)caC>caT	p.H442H	ZNF585B_ENST00000312908.5_Silent_p.H30H|ZNF585B_ENST00000531805.1_Silent_p.H387H|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCCCACAGTGACCACATT	0.393000													48	77					0	0	0.870114	0	0
ACTR1B	10120	broad.mit.edu	37	2	98277103	98277103	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:98277103C>A	ENST00000289228.5	-	3	336	c.120G>T	c.(118-120)ggG>ggT	p.G40G		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	40						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCTTCGGCCGCCCGACACTGT	0.597000													35	124					1.51926e-22	2.57852e-22	0.870114	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58302882	58302882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:58302882C>A	ENST00000249750.4	-	4	1225	c.458G>T	c.(457-459)tGg>tTg	p.W153L	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.W153L|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.W132L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.W124L|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.W57L	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	153					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTTATCAGCCCAGCCTGCGTA	0.448000													18	48					4.4004e-07	5.14349e-07	0.654019	1	0
VANGL2	57216	broad.mit.edu	37	1	160388865	160388865	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:160388865C>A	ENST00000368061.2	+	4	740	c.266C>A	c.(265-267)aCa>aAa	p.T89K		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	89					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGACCTCACACGCATCGCC	0.617000													34	141					6.04917e-29	1.11204e-28	0.827153	1	0
TAS1R2	80834	broad.mit.edu	37	1	19175931	19175931	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:19175931C>A	ENST00000375371.3	-	4	1392	c.1371G>T	c.(1369-1371)cgG>cgT	p.R457R	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	457					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GATTCTGGCTCCGGTCCCATT	0.562000													27	64					6.38683e-12	8.78051e-12	0.729181	1	0
MYH2	4620	broad.mit.edu	37	17	10432536	10432536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:10432536C>A	ENST00000245503.5	-	26	3681	c.3297G>T	c.(3295-3297)aaG>aaT	p.K1099N	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1099N|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1099					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCTTCAATCTTGCTTTGCA	0.368000													22	47					1.06801e-11	1.44828e-11	0.740014	1	0
FGF8	2253	broad.mit.edu	37	10	103534584	103534584	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:103534584C>T	ENST00000347978.2	-	3	324	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	FGF8_ENST00000346714.3_Missense_Mutation_p.R41Q|FGF8_ENST00000320185.2_Missense_Mutation_p.R81Q|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Missense_Mutation_p.R70Q	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	70					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTGGTAGGTCCGGATGAGGCG	0.572000													3	68					0	0	0.150653	0	0
CEP170	9859	broad.mit.edu	37	1	243292725	243292725	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:243292725C>A	ENST00000366542.1	-	18	4401	c.4350G>T	c.(4348-4350)tgG>tgT	p.W1450C	CEP170_ENST00000366543.1_Missense_Mutation_p.W1326C|CEP170_ENST00000366544.1_Missense_Mutation_p.W1352C|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000481987.1_Missense_Mutation_p.W186C|CEP170_ENST00000490813.1_Missense_Mutation_p.W159C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1450	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTATGTCATCCCAATTCCGAT	0.244000													4	5					8.12818e-05	8.86306e-05	0.248553	1	0
GPR112	139378	broad.mit.edu	37	X	135431923	135431923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:135431923C>A	ENST00000394143.1	+	6	6349	c.6058C>A	c.(6058-6060)Ccg>Acg	p.P2020T	GPR112_ENST00000287534.4_Missense_Mutation_p.P1957T|GPR112_ENST00000412101.1_Missense_Mutation_p.P1815T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1815T|GPR112_ENST00000370652.1_Missense_Mutation_p.P2020T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2020					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGCTCCCCTCCGGCAACTGT	0.453000													38	42					9.9191e-30	1.83193e-29	0.840704	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530550	140530550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140530550G>T	ENST00000231136.1	+	1	712	c.712G>T	c.(712-714)Gtc>Ttc	p.V238F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V102F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		238	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V238I(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGTCCCCGAGTT	0.567000													8	12					4.1943e-16	6.35936e-16	0.361761	1	0
TOX2	84969	broad.mit.edu	37	20	42695377	42695377	+	Missense_Mutation	SNP	C	C	A	rs145790690		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:42695377C>A	ENST00000358131.5	+	7	1518	c.1310C>A	c.(1309-1311)cCg>cAg	p.P437Q	TOX2_ENST00000435864.2_Missense_Mutation_p.P333Q|TOX2_ENST00000423191.1_Missense_Mutation_p.P413Q|TOX2_ENST00000372999.1_Missense_Mutation_p.P413Q|TOX2_ENST00000341197.3_Missense_Mutation_p.P455Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	437	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TAGGACTTCCCGCACATCTCT	0.647000													53	194					2.50483e-33	4.74724e-33	0.870114	1	0
SELP	6403	broad.mit.edu	37	1	169582824	169582824	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:169582824C>A	ENST00000263686.6	-	4	626	c.589_splice	c.e4+1	p.V197_splice	SELP_ENST00000367792.2_Splice_Site_p.V197_splice|SELP_ENST00000367791.2_Splice_Site_p.V197_splice|SELP_ENST00000458599.2_Splice_Site_p.V197_splice|SELP_ENST00000367786.2_Splice_Site_p.V197_splice|SELP_ENST00000367788.2_Splice_Site_p.V197_splice|SELP_ENST00000367793.2_Splice_Site_p.V197_splice|SELP_ENST00000367794.2_Splice_Site_p.V197_splice	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	197					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GAAGCCTCACCGTATTCACAT	0.443000													11	46					9.31168e-06	1.04691e-05	0.435327	1	0
BCHE	590	broad.mit.edu	37	3	165547328	165547328	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:165547328C>A	ENST00000264381.3	-	2	1660	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	498					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTTGCCCACCGTTTCACTA	0.393000													31	40					4.17593e-13	5.91467e-13	0.834066	1	0
LPAR4	2846	broad.mit.edu	37	X	78011382	78011382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:78011382C>A	ENST00000435339.2	+	2	1421	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	LPAR4_ENST00000373301.2_Missense_Mutation_p.P339H	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	339						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACTGAAACACCTTTGACCACA	0.403000													53	49					3.30712e-30	6.13628e-30	0.870114	1	0
HEATR5B	54497	broad.mit.edu	37	2	37247016	37247016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:37247016C>A	ENST00000233099.5	-	26	4135	c.4040G>T	c.(4039-4041)gGa>gTa	p.G1347V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G1347V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1347							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAGAGCAGCTCCCACCTAGAA	0.393000													10	35					7.93312e-07	9.1918e-07	0.457914	1	0
FLRT2	23768	broad.mit.edu	37	14	86089824	86089824	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:86089824G>C	ENST00000330753.4	+	2	2733	c.1966G>C	c.(1966-1968)Gag>Cag	p.E656Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.E656Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	656					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCCAGACCTGGAGCACTGCCA	0.512000													110	261					0	0	0.870114	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336548	30336548	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:30336548T>C	ENST00000375377.1	-	2	295	c.194A>G	c.(193-195)cAt>cGt	p.H65R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	65										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCACTCACATGTCCTTTCCC	0.652000													10	56					0	0	0.361761	0	0
XIRP2	129446	broad.mit.edu	37	2	168107880	168107880	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:168107880G>A	ENST00000409195.1	+	9	10067	c.9978G>A	c.(9976-9978)gtG>gtA	p.V3326V	XIRP2_ENST00000409273.1_Silent_p.V3104V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V3326V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3151					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATTTCGTGAATGACCCTG	0.438000													24	89					0	0	0.667858	0	0
HSPG2	3339	broad.mit.edu	37	1	22178609	22178609	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:22178609C>G	ENST00000374695.3	-	53	6921	c.6842G>C	c.(6841-6843)cGt>cCt	p.R2281P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2281	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCCCCCACGCTTGTACCA	0.662000													29	77					0	0	0.819951	0	0
CACNA1B	774	broad.mit.edu	37	9	140777195	140777195	+	Splice_Site	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:140777195G>C	ENST00000277549.5	+	3	535		c.e3-1		CACNA1B_ENST00000371372.1_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|RP11-188C12.3_ENST00000371390.1_RNA			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCTTCTCCTAGGACGACACGG	0.587000													18	30					0	0	0.575678	0	0
STAP1	26228	broad.mit.edu	37	4	68456639	68456639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:68456639G>T	ENST00000265404.2	+	7	779	c.697G>T	c.(697-699)Gga>Tga	p.G233*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.G233*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	233	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GATGAGCGTAGGACAAAACTA	0.363000													12	53					8.28177e-16	1.23915e-15	0.557998	1	0
STXBP5L	9515	broad.mit.edu	37	3	120976175	120976175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:120976175C>A	ENST00000273666.6	+	17	2098	c.1827C>A	c.(1825-1827)tgC>tgA	p.C609*	STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.C609*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.C609*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.C609*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.C609*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	609					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTATTCCATGCCTCAAGTAAG	0.358000													16	38					8.28177e-16	1.23915e-15	0.557998	1	0
PTPRH	5794	broad.mit.edu	37	19	55710200	55710200	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:55710200G>T	ENST00000376350.3	-	8	1523	c.1501C>A	c.(1501-1503)Cca>Aca	p.P501T	PTPRH_ENST00000263434.5_Missense_Mutation_p.P323T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	501	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GACTGGCCTGGGCCCTGGGGA	0.592000													17	35					5.35267e-07	6.24739e-07	0.557998	1	0
COBL	23242	broad.mit.edu	37	7	51111321	51111321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:51111321C>A	ENST00000395542.2	-	10	1595	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	COBL_ENST00000265136.7_Nonsense_Mutation_p.E389*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	389										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACGGTCTCCTCCGCCTCTGAC	0.632000													19	66					5.35356e-11	7.09057e-11	0.639603	1	0
CACNA1H	8912	broad.mit.edu	37	16	1270378	1270378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:1270378G>T	ENST00000348261.5	+	35	6694	c.6446G>T	c.(6445-6447)cGg>cTg	p.R2149L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2143L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2143L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2149					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AAGCCGGGCCGGGCAGACGAG	0.761000													7	5					0.000157383	0.000169752	0.278610	1	0
ZNF675	171392	broad.mit.edu	37	19	23836599	23836599	+	Missense_Mutation	SNP	C	C	A	rs150675239	by1000genomes	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:23836599C>A	ENST00000359788.4	-	4	1304	c.1136G>T	c.(1135-1137)cGa>cTa	p.R379L	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	379					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)				ATTTGAGGATCGGTTAAAAGC	0.388000													17	29					2.94398e-08	3.58868e-08	0.557998	1	0
ROBO3	64221	broad.mit.edu	37	11	124743272	124743272	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:124743272T>G	ENST00000397801.1	+	10	1795	c.1603T>G	c.(1603-1605)Tgg>Ggg	p.W535G	ROBO3_ENST00000538940.1_Missense_Mutation_p.W513G	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	535					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGGAGCGGCTGGCTTAAGAT	0.512000													8	16					0	0	0.387290	0	0
C2orf71	388939	broad.mit.edu	37	2	29294973	29294973	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:29294973C>T	ENST00000331664.5	-	1	2154	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	719					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACATTCCAGTCTGTGGCCTTG	0.532000													34	96					0	0	0.819951	0	0
BABAM1	29086	broad.mit.edu	37	19	17389819	17389819	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:17389819G>C	ENST00000359435.4	+	9	1145	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	BABAM1_ENST00000447614.2_Missense_Mutation_p.E318Q|BABAM1_ENST00000595632.1_Missense_Mutation_p.E243Q|CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000598188.1_Missense_Mutation_p.E318Q|BABAM1_ENST00000601043.1_Missense_Mutation_p.E318Q	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	318					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						CCTGCTGGAGGAGGAGGATGA	0.582000													8	9					0	0	0.335167	0	0
TCN2	6948	broad.mit.edu	37	22	31008875	31008875	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:31008875G>A	ENST00000215838.3	+	3	767	c.273G>A	c.(271-273)gaG>gaA	p.E91E	TCN2_ENST00000407817.3_Silent_p.E91E|TCN2_ENST00000405742.3_Silent_p.E87E			P20062	TCO2_HUMAN	transcobalamin II	91					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTTCAGCGAGGATGACGGTG	0.597000													19	39					0	0	0.706142	0	0
OBSCN	84033	broad.mit.edu	37	1	228401927	228401927	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:228401927G>T	ENST00000570156.2	+	4	1385	c.1311G>T	c.(1309-1311)acG>acT	p.T437T	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T437T|OBSCN_ENST00000422127.1_Silent_p.T437T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	437	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGGCGACACGGCTATGTTTT	0.721000													42	118					1.38658e-30	2.58481e-30	0.870114	1	0
CSMD1	64478	broad.mit.edu	37	8	3474270	3474270	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:3474270C>A	ENST00000520002.1	-	8	1614	c.1059G>T	c.(1057-1059)ggG>ggT	p.G353G	CSMD1_ENST00000602723.1_Silent_p.G353G|CSMD1_ENST00000400186.3_Silent_p.G353G|CSMD1_ENST00000602557.1_Silent_p.G353G|CSMD1_ENST00000542608.1_Silent_p.G353G|CSMD1_ENST00000539096.1_Silent_p.G353G|CSMD1_ENST00000537824.1_Silent_p.G353G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	353	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCTGGAATCCCAGGATCTG	0.378000													11	15					4.36969e-10	5.5831e-10	0.435327	1	0
OR10R2	343406	broad.mit.edu	37	1	158450286	158450286	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:158450286C>G	ENST00000368152.1	+	1	619	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGTCATTCTTCTGGCTTGTAC	0.388000													56	191					0	0	0.870114	0	0
MRPS23	51649	broad.mit.edu	37	17	55927381	55927381	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:55927381C>A	ENST00000313608.8	-	0	36				MRPS23_ENST00000578444.1_De_novo_Start_OutOfFrame	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23						translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TGATCTGCGCCTGGTACCGAG	0.642000													7	8					7.48243e-07	8.68224e-07	0.335167	1	0
ITGA9	3680	broad.mit.edu	37	3	37583973	37583973	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:37583973G>T	ENST00000264741.5	+	15	1842	c.1586G>T	c.(1585-1587)aGg>aTg	p.R529M	ITGA9_ENST00000422441.1_Missense_Mutation_p.R529M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	529					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGATGCCCAGGGTCTACTTT	0.522000													28	36					9.39395e-14	1.34731e-13	0.706142	1	0
PIGG	54872	broad.mit.edu	37	4	499507	499507	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:499507G>T	ENST00000453061.2	+	3	467	c.360_splice	c.e3-1	p.A121_splice	PIGG_ENST00000509768.1_Splice_Site_p.A32_splice|PIGG_ENST00000503111.1_Splice_Site_p.A32_splice|PIGG_ENST00000310340.5_Splice_Site_p.A121_splice|PIGG_ENST00000296306.7_Splice_Site_p.A32_splice|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000504346.1_Splice_Site_p.A32_splice|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	121					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTGACTGCAGGCATTGATGAC	0.463000													13	58					6.31663e-08	7.61823e-08	0.479597	1	0
ZNF184	7738	broad.mit.edu	37	6	27420876	27420876	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:27420876C>A	ENST00000211936.6	-	6	746	c.462G>T	c.(460-462)caG>caT	p.Q154H	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q154H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTGGTTTGCCTGCTGTCTCT	0.398000													48	133					2.17126e-26	3.87516e-26	0.870114	1	0
LTB4R	1241	broad.mit.edu	37	14	24785485	24785485	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:24785485G>A	ENST00000396789.4	+	2	2353	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	LTB4R_ENST00000345363.3_Missense_Mutation_p.A210T|LTB4R_ENST00000396782.2_Missense_Mutation_p.A210T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TCGGCTACAGGCCCGGCGCTT	0.677000													8	26					0	0	0.278610	0	0
LPPR4	9890	broad.mit.edu	37	1	99772360	99772360	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:99772360C>G	ENST00000370185.3	+	7	2583	c.2086C>G	c.(2086-2088)Cac>Gac	p.H696D	LPPR4_ENST00000457765.1_Missense_Mutation_p.H638D|LPPR4_ENST00000370184.1_Missense_Mutation_p.H538D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		696	Poly-His.						phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAATGAGCATCACCACCACGG	0.527000													5	34					0	0	0.248553	0	0
PGK2	5232	broad.mit.edu	37	6	49754561	49754561	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:49754561C>T	ENST00000304801.3	-	1	492	c.340G>A	c.(340-342)Ggt>Agt	p.G114S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	114					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ATGACTGAACCAGGAGCTGGG	0.507000													32	73					0	0	0.812448	0	0
DNAH8	1769	broad.mit.edu	37	6	38790757	38790757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:38790757G>T	ENST00000359357.3	+	25	3270	c.3016G>T	c.(3016-3018)Gac>Tac	p.D1006Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1223Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1006Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCCTGCAGGACTTTCAGAA	0.473000													18	33					8.10497e-08	9.7603e-08	0.592651	1	0
LCE3E	353145	broad.mit.edu	37	1	152538570	152538570	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:152538570G>T	ENST00000368789.1	-	2	170	c.115C>A	c.(115-117)Cca>Aca	p.P39T		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	39					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCAGAGCTTGGGGCACAGCCA	0.647000													25	63					3.73808e-20	6.16048e-20	0.693898	1	0
FZD2	2535	broad.mit.edu	37	17	42635240	42635240	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:42635240G>C	ENST00000315323.3	+	1	316	c.184G>C	c.(184-186)Ggc>Cgc	p.G62R		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	62	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAACCTTCTGGGCCACACGAA	0.612000													51	166					0	0	0.870114	0	0
TUBG1	7283	broad.mit.edu	37	17	40766619	40766619	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:40766619C>A	ENST00000251413.3	+	10	1164	c.1102C>A	c.(1102-1104)Ccc>Acc	p.P368T		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	368					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCCCTACCTGCCCTCGGCCCA	0.597000													45	144					7.50695e-29	1.37054e-28	0.870114	1	0
ZNF536	9745	broad.mit.edu	37	19	31039408	31039408	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:31039408G>T	ENST00000355537.3	+	4	3029	c.2882G>T	c.(2881-2883)gGc>gTc	p.G961V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAACCCAGTGGCAAGTCCTCC	0.572000													69	127					5.32961e-40	1.03725e-39	0.870114	1	0
CNTN6	27255	broad.mit.edu	37	3	1415382	1415382	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:1415382C>A	ENST00000446702.2	+	15	2508	c.1881C>A	c.(1879-1881)ccC>ccA	p.P627P	CNTN6_ENST00000350110.2_Silent_p.P627P|CNTN6_ENST00000539053.1_Silent_p.P555P			Q9UQ52	CNTN6_HUMAN	contactin 6	627	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATAACAGTCCCATTCAAATAT	0.438000													54	60					2.37032e-18	3.78871e-18	0.870114	1	0
VASH2	79805	broad.mit.edu	37	1	213146272	213146272	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:213146272T>A	ENST00000366968.4	+	7	1003	c.653T>A	c.(652-654)cTg>cAg	p.L218Q	VASH2_ENST00000366965.2_Missense_Mutation_p.L239Q|VASH2_ENST00000366964.3_Missense_Mutation_p.L141Q|VASH2_ENST00000517399.1_Missense_Mutation_p.L283Q|VASH2_ENST00000366967.2_Missense_Mutation_p.L179Q|VASH2_ENST00000366966.2_Missense_Mutation_p.L218Q|VASH2_ENST00000271776.4_3'UTR	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	283					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGGAAGGAGCTGGAGAAATAT	0.522000													12	41					0	0	0.435327	0	0
DAB2	1601	broad.mit.edu	37	5	39390009	39390009	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:39390009T>A	ENST00000320816.6	-	6	955	c.488A>T	c.(487-489)aAa>aTa	p.K163I	DAB2_ENST00000339788.6_Missense_Mutation_p.K163I|DAB2_ENST00000509337.1_Missense_Mutation_p.K163I|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000545653.1_Missense_Mutation_p.K163I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	163	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAAAAGGTCTTTAAGATCAAC	0.303000													6	22					0	0	0.248553	0	0
GPR98	84059	broad.mit.edu	37	5	89949034	89949034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:89949034C>A	ENST00000405460.2	+	20	3739	c.3643C>A	c.(3643-3645)Cca>Aca	p.P1215T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1215					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGTGGATCCCCAGGTCCTGG	0.398000													6	6					1.06961e-07	1.27648e-07	0.278610	1	0
PLCB1	23236	broad.mit.edu	37	20	8698467	8698467	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:8698467C>A	ENST00000378641.3	+	14	1960	c.1485C>A	c.(1483-1485)agC>agA	p.S495R	PLCB1_ENST00000338037.6_Missense_Mutation_p.S495R|PLCB1_ENST00000378637.2_Missense_Mutation_p.S495R|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	495					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTCCTCCAGCATGTTCGAGC	0.512000													9	34					4.68919e-08	5.68127e-08	0.361761	1	0
TIAM1	7074	broad.mit.edu	37	21	32525424	32525424	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:32525424A>T	ENST00000286827.3	-	19	3671	c.3200T>A	c.(3199-3201)cTa>cAa	p.L1067Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.L1007Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1067	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAGAGGCTTTAGGTATCTCTC	0.333000													21	57					0	0	0.654019	0	0
CACNA1C	775	broad.mit.edu	37	12	2775903	2775903	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:2775903G>A	ENST00000399655.1	+	37	4843	c.4578G>A	c.(4576-4578)ccG>ccA	p.P1526P	CACNA1C_ENST00000335762.5_Silent_p.P1551P|CACNA1C_ENST00000399637.1_Silent_p.P1526P|CACNA1C_ENST00000399649.1_Silent_p.P1513P|CACNA1C_ENST00000399597.1_Silent_p.P1526P|CACNA1C_ENST00000399629.1_Silent_p.P1543P|CACNA1C_ENST00000406454.3_Silent_p.P1526P|CACNA1C_ENST00000399595.1_Silent_p.P1515P|CACNA1C_ENST00000347598.4_Silent_p.P1574P|CACNA1C_ENST00000399603.1_Silent_p.P1526P|CACNA1C_ENST00000327702.7_Silent_p.P1526P|CACNA1C_ENST00000399644.1_Silent_p.P1526P|CACNA1C_ENST00000399591.1_Silent_p.P1515P|CACNA1C_ENST00000399641.1_Silent_p.P1526P|CACNA1C_ENST00000399638.1_Silent_p.P1554P|CACNA1C_ENST00000399606.1_Silent_p.P1546P|CACNA1C_ENST00000399617.1_Silent_p.P1526P|CACNA1C_ENST00000402845.3_Silent_p.P1526P|CACNA1C_ENST00000344100.3_Silent_p.P1548P|CACNA1C_ENST00000399621.1_Silent_p.P1526P|CACNA1C_ENST00000399601.1_Silent_p.P1526P|CACNA1C_ENST00000399634.1_Silent_p.P1526P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1574	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.P1526P(1)|p.P1574P(1)|p.P1548P(1)|p.P1604P(1)|p.P1061P(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGATTCAGCCGCCACTAGGTT	0.577000													4	4					0	0	0.217242	0	0
OR13H1	347468	broad.mit.edu	37	X	130678154	130678154	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:130678154T>A	ENST00000338616.3	+	1	205	c.107T>A	c.(106-108)cTc>cAc	p.L36H		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATAATTTACCTCAGCACATTG	0.388000													63	45					0	0	0.870114	0	0
ASIP	434	broad.mit.edu	37	20	32848321	32848321	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:32848321C>G	ENST00000568305.1	+	2	343	c.141C>G	c.(139-141)gtC>gtG	p.V47V	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.V47V			P42127	ASIP_HUMAN	agouti signaling protein	47					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						TACTGGATGTCCCTTCTGTCT	0.567000													31	101					0	0	0.827153	0	0
C10orf120	399814	broad.mit.edu	37	10	124457646	124457646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:124457646G>T	ENST00000329446.4	-	3	642	c.611C>A	c.(610-612)gCa>gAa	p.A204E		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	204										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTATTTTTTGCCATTGGACC	0.463000													8	13					0.000274275	0.000292658	0.307466	1	0
PRR3	80742	broad.mit.edu	37	6	30525208	30525208	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:30525208G>A	ENST00000376560.3	+	1	546	c.87G>A	c.(85-87)gaG>gaA	p.E29E	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.E29E	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	29	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CTGGAGATGAGGAGGATGGGA	0.617000													22	7					0	0	0.667858	0	0
OR51G2	81282	broad.mit.edu	37	11	4936071	4936071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:4936071G>A	ENST00000322013.3	-	1	851	c.823C>T	c.(823-825)Cac>Tac	p.H275Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGACCAGGTGGGGTGCCTGC	0.512000													15	78					0	0	0.500413	0	0
INPP4B	8821	broad.mit.edu	37	4	143181714	143181714	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:143181714C>A	ENST00000513000.1	-	12	1052	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S	INPP4B_ENST00000509777.1_Missense_Mutation_p.A207S|INPP4B_ENST00000262992.4_Missense_Mutation_p.A207S|INPP4B_ENST00000308502.4_Missense_Mutation_p.A207S|INPP4B_ENST00000508116.1_Missense_Mutation_p.A207S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	207					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CATACCAGGGCACACTAGGaa	0.303000													17	35					5.03518e-11	6.68001e-11	0.557998	1	0
KCTD12	115207	broad.mit.edu	37	13	77460026	77460026	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:77460026G>A	ENST00000377474.2	-	1	499	c.258C>T	c.(256-258)ggC>ggT	p.G86G	KCTD12_ENST00000317765.2_Silent_p.G86G	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	86						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GGAAGAGGAAGCCGTCCCGGT	0.662000													10	17					0	0	0.361761	0	0
PITX2	5308	broad.mit.edu	37	4	111539447	111539447	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:111539447G>T	ENST00000354925.2	-	7	2493	c.788C>A	c.(787-789)cCt>cAt	p.P263H	PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.P270H|PITX2_ENST00000355080.5_Missense_Mutation_p.P217H|PITX2_ENST00000394598.2_Missense_Mutation_p.P263H	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	263					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CGGCGCGTAAGGACAGGCAGG	0.592000													11	42					0.00136819	0.001433	0.411799	1	0
NUP210L	91181	broad.mit.edu	37	1	153998025	153998025	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:153998025C>T	ENST00000368559.3	-	30	4186	c.4115G>A	c.(4114-4116)gGg>gAg	p.G1372E	NUP210L_ENST00000368553.1_Missense_Mutation_p.G305E|NUP210L_ENST00000271854.3_Missense_Mutation_p.G1372E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1372						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CACCTGGACCCCAGTTATGGT	0.378000													30	114					0	0	0.796494	0	0
MTUS2	23281	broad.mit.edu	37	13	29608083	29608083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:29608083C>A	ENST00000431530.3	+	2	2355	c.2297C>A	c.(2296-2298)cCt>cAt	p.P766H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	756	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATGAAGTCCCTCCAACTTTC	0.448000													14	29					1.99824e-07	2.36344e-07	0.520397	1	0
TET3	200424	broad.mit.edu	37	2	74274236	74274236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:74274236C>T	ENST00000409262.3	+	1	787	c.787C>T	c.(787-789)Cag>Tag	p.Q263*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	263							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGATCTCCCCAGTCTTACCT	0.592000													18	61					0	0	0.608945	0	0
LMBRD2	92255	broad.mit.edu	37	5	36111361	36111361	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:36111361C>A	ENST00000296603.4	-	14	2103		c.e14-1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTTCCCAAACTAATAAAAGC	0.318000													6	35					2.74318e-10	3.56793e-10	0.335167	1	0
HYDIN	54768	broad.mit.edu	37	16	71015295	71015295	+	Splice_Site	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:71015295T>C	ENST00000393567.2	-	29	4659	c.4510_splice	c.e29+1	p.T1503_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1503										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGTACTACCTGTGAGGTTCC	0.473000													13	40					0	0	0.479597	0	0
ANKK1	255239	broad.mit.edu	37	11	113264440	113264440	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:113264440G>T	ENST00000303941.3	+	2	517	c.423G>T	c.(421-423)ctG>ctT	p.L141L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	141	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGCCGCCTCTGCTCCACCTGG	0.567000													16	58					1.36565e-18	2.19607e-18	0.639603	1	0
ACSL3	2181	broad.mit.edu	37	2	223786141	223786141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:223786141G>A	ENST00000357430.3	+	8	1480	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E317K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	317					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAGGATTCCAGAACTAGGGTA	0.338000			T	ETV1	prostate								39	151					0	0	0.870114	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896210	151896210	+	RNA	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:151896210T>C	ENST00000361201.4	-	0	520					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						TTGAGTTCTTTTGGCTGGTCG	0.522000													2	4					0	0	0.248553	0	0
TRHR	7201	broad.mit.edu	37	8	110099855	110099855	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:110099855G>T	ENST00000518632.1	+	2	465	c.114G>T	c.(112-114)ctG>ctT	p.L38L	TRHR_ENST00000311762.2_Silent_p.L38L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	38						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTGTGGCCTGGGCATTGTAG	0.507000													35	52					7.04047e-22	1.18986e-21	0.812448	1	0
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								4	52					0	0	0.184627	0	0
CPT1B	1375	broad.mit.edu	37	22	51009633	51009633	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:51009633C>A	ENST00000360719.2	-	15	1966	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	CPT1B_ENST00000405237.3_Missense_Mutation_p.S610I|CPT1B_ENST00000434492.2_Missense_Mutation_p.S405I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.S610I|CPT1B_ENST00000395650.2_Missense_Mutation_p.S610I|CPT1B_ENST00000457250.1_Missense_Mutation_p.S576I|CPT1B_ENST00000440709.1_Missense_Mutation_p.S529I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	610					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGTGGACTCGCTGGTACAGGA	0.587000													25	47					2.4375e-19	3.95163e-19	0.717897	1	0
HOXD12	3238	broad.mit.edu	37	2	176965281	176965281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:176965281C>A	ENST00000404162.2	+	2	634	c.634C>A	c.(634-636)Ccg>Acg	p.P212T	HOXD12_ENST00000406506.2_Silent_p.A202A	NM_021193.3	NP_067016.3	P35452	HXD12_HUMAN	homeobox D12	212						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CGGGGAGGGCCCGCAAGAAGC	0.607000													4	18					0.00909568	0.00940281	0.150653	1	0
ZNF804A	91752	broad.mit.edu	37	2	185798364	185798364	+	Missense_Mutation	SNP	G	G	A	rs145158210		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:185798364G>A	ENST00000302277.6	+	3	884	c.290G>A	c.(289-291)cGa>cAa	p.R97Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	97						intracellular	zinc ion binding	p.R97Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTGCTCGAAATGTAGCA	0.368000													11	34					0	0	0.435327	0	0
AKNAD1	254268	broad.mit.edu	37	1	109377550	109377550	+	Splice_Site	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:109377550C>T	ENST00000370001.3	-	8	1933		c.e8+1		AKNAD1_ENST00000369994.1_Splice_Site|AKNAD1_ENST00000357393.4_Splice_Site|AKNAD1_ENST00000369995.3_Splice_Site	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTAGGACTCACGTCTGCGGGG	0.652000													9	32					0	0	0.411799	0	0
CAP2	10486	broad.mit.edu	37	6	17543168	17543168	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:17543168G>C	ENST00000229922.2	+	10	1635	c.1103G>C	c.(1102-1104)gGg>gCg	p.G368A	CAP2_ENST00000378990.2_Missense_Mutation_p.G342A|CAP2_ENST00000465994.1_Missense_Mutation_p.G304A|CAP2_ENST00000493172.1_Missense_Mutation_p.G108A|CAP2_ENST00000489374.1_Missense_Mutation_p.G256A	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	368	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.G368V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CAGATAAAAGGGAAAGTAAAC	0.348000													14	55					0	0	0.479597	0	0
GAD2	2572	broad.mit.edu	37	10	26505809	26505809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:26505809G>T	ENST00000376261.3	+	1	574	c.71G>T	c.(70-72)gGc>gTc	p.G24V	GAD2_ENST00000259271.3_Missense_Mutation_p.G24V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	24					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAGAATCCCGGCACAGGTAGG	0.612000													15	51					7.45023e-12	1.02072e-11	0.592651	1	0
ASXL3	80816	broad.mit.edu	37	18	31320181	31320181	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:31320181A>T	ENST00000269197.5	+	11	2813	c.2813A>T	c.(2812-2814)cAt>cTt	p.H938L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAACCTCACATACTTCCAAG	0.408000													7	16					0	0	0.335167	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667852	106667852	+	RNA	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:106667852C>A	ENST00000390606.2	-	0	141																											CACACCTCCCCCAGACTCCAC	0.562000													63	106					4.83677e-39	9.36757e-39	0.870114	1	0
MIB1	57534	broad.mit.edu	37	18	19399576	19399576	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:19399576C>T	ENST00000261537.6	+	12	2062	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	600					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATTTAATGCTCTGCATCATGC	0.373000													43	102					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179391851	179391851	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:179391851G>T	ENST00000589042.1	-	363	108088	c.107864C>A	c.(107863-107865)aCc>aAc	p.T35955N	TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T33387N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T34314N|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T27082N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T26890N|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T27015N|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34314							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)			GATGATCAGGGTTGTCAGGTC	0.443000													13	49					4.36969e-10	5.5831e-10	0.435327	1	0
LRIT3	345193	broad.mit.edu	37	4	110791464	110791464	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:110791464C>A	ENST00000327908.3	+	4	1774	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	LRIT3_ENST00000409621.2_Missense_Mutation_p.S337Y|LRIT3_ENST00000379920.3_Missense_Mutation_p.S475Y|LRIT3_ENST00000594814.1_Missense_Mutation_p.S520Y			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	475	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GTGTTGTATTCCAAGTATGGT	0.473000													37	175					6.87076e-12	9.42953e-12	0.870114	1	0
AACS	65985	broad.mit.edu	37	12	125626689	125626689	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:125626689G>T	ENST00000545511.1	+	7	5456	c.469G>T	c.(469-471)Gga>Tga	p.G157*	AACS_ENST00000543665.1_Nonsense_Mutation_p.G77*|AACS_ENST00000316543.10_Nonsense_Mutation_p.G243*|AACS_ENST00000316519.6_Nonsense_Mutation_p.G645*|AACS_ENST00000261686.6_Missense_Mutation_p.W577L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	645					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GATCATCGCTGGAAAAGCCGT	0.537000													32	45					1.36615e-20	2.26552e-20	0.769981	1	0
CFP	5199	broad.mit.edu	37	X	47487500	47487500	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:47487500C>A	ENST00000247153.3	-	4	645		c.e4+1		CFP_ENST00000377005.2_Splice_Site|CFP_ENST00000396992.3_Splice_Site	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin						complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCCTCCTCACCAGGACAGCA	0.642000													14	11					6.72482e-11	8.89196e-11	0.479597	1	0
SLFN11	91607	broad.mit.edu	37	17	33679388	33679388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:33679388C>T	ENST00000394566.1	-	7	2965	c.2693G>A	c.(2692-2694)tGg>tAg	p.W898*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W898*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	898						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGCCACCCCACGGAAAAAT	0.438000													46	145					0	0	0.870114	0	0
PDE9A	5152	broad.mit.edu	37	21	44151978	44151978	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:44151978G>A	ENST00000291539.6	+	5	421	c.361G>A	c.(361-363)Gga>Aga	p.G121R	PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.G54R|PDE9A_ENST00000328862.6_Missense_Mutation_p.G95R|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.G80R	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	121					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CCGGAGGGAAGGAGCATTTGA	0.637000													20	44					0	0	0.624587	0	0
CHST6	4166	broad.mit.edu	37	16	75513022	75513022	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:75513022G>A	ENST00000332272.4	-	3	884	c.705C>T	c.(703-705)gcC>gcT	p.A235A	CHST6_ENST00000390664.2_Silent_p.A235A|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	235					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCCGGGGTCGGCCTCCACCC	0.731000													11	42					0	0	0.387290	0	0
TGS1	96764	broad.mit.edu	37	8	56708608	56708608	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:56708608A>T	ENST00000260129.5	+	7	1916	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	480					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CTTAAGTCTAAGTACCTAGAC	0.353000													13	58					0	0	0.411799	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	124					0	0	0.115264	0	0
FBXL18	80028	broad.mit.edu	37	7	5530942	5530942	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:5530942G>C	ENST00000382368.3	-	4	2043	c.1920C>G	c.(1918-1920)tgC>tgG	p.C640W	FBXL18_ENST00000453700.3_Missense_Mutation_p.C640W	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	640									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAACCTGCAGGCAGCGAGCCA	0.667000													5	5					0	0	0.278610	0	0
KCNA3	3738	broad.mit.edu	37	1	111216997	111216997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:111216997G>T	ENST00000369769.2	-	1	658	c.435C>A	c.(433-435)aaC>aaA	p.N145K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	145						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAGTACTCGTTGCGGAGCG	0.652000													33	129					2.05212e-20	3.39602e-20	0.812448	1	0
NPY2R	4887	broad.mit.edu	37	4	156135204	156135204	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:156135204C>T	ENST00000329476.3	+	2	602	c.113C>T	c.(112-114)cCa>cTa	p.P38L	NPY2R_ENST00000506608.1_Missense_Mutation_p.P38L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	38					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GACCCTGAGCCAGAGCTTATA	0.488000													16	65					0	0	0.520397	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114924	23114924	+	RNA	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:23114924A>T	ENST00000390313.2	+	0	205																											TGTGCTGGTCATCTATAGCGA	0.577000													13	21					0	0	0.500413	0	0
RGPD4	285190	broad.mit.edu	37	2	108487733	108487733	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:108487733G>T	ENST00000408999.3	+	20	3350	c.3273G>T	c.(3271-3273)gaG>gaT	p.E1091D	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1091D	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1091	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAAAAACGAGGTCAATGGCA	0.413000													98	274					1.33972e-64	2.70663e-64	0.870114	1	0
ACADM	34	broad.mit.edu	37	1	76205693	76205693	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:76205693G>C	ENST00000370841.4	+	7	934	c.497G>C	c.(496-498)gGc>gCc	p.G166A	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.G199A|ACADM_ENST00000541113.1_Missense_Mutation_p.G130A|ACADM_ENST00000420607.2_Missense_Mutation_p.G170A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	166					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CCTGGAGCAGGCTCTGATGTA	0.338000													6	26					0	0	0.248553	0	0
WDR35	57539	broad.mit.edu	37	2	20141581	20141581	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:20141581C>A	ENST00000345530.3	-	18	2013	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V	WDR35_ENST00000416055.2_Missense_Mutation_p.G198V|WDR35_ENST00000281405.4_Missense_Mutation_p.G622V	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	633										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAATATATCCAGAGGTCTG	0.264000													4	5					5.9392e-07	6.9117e-07	0.217242	1	0
TIA1	7072	broad.mit.edu	37	2	70441501	70441501	+	Silent	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:70441501T>A	ENST00000433529.2	-	12	1224	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	TIA1_ENST00000445587.1_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Silent_p.A337A|TIA1_ENST00000415783.2_Silent_p.A327A	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	338					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GCTGGTTCCATGCCTGGCCAT	0.383000													28	88					0	0	0.812448	0	0
SEC24B	10427	broad.mit.edu	37	4	110431267	110431267	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:110431267G>T	ENST00000265175.5	+	8	1831	c.1776_splice	c.e8+1	p.T592_splice	SEC24B_ENST00000504968.2_Splice_Site_p.T622_splice|SEC24B_ENST00000399100.2_Splice_Site_p.T557_splice	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	592					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GAGACCTAACGGTAAAGTAAC	0.308000													13	32					9.31168e-06	1.04691e-05	0.435327	1	0
CWH43	80157	broad.mit.edu	37	4	48994095	48994095	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:48994095C>G	ENST00000226432.4	+	4	682	c.499C>G	c.(499-501)Cgt>Ggt	p.R167G	CWH43_ENST00000513409.1_Missense_Mutation_p.R140G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	167					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CACACTTGATCGTATTGGCAC	0.373000													32	93					0	0	0.819951	0	0
INPP5B	3633	broad.mit.edu	37	1	38411524	38411524	+	Splice_Site	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:38411524T>C	ENST00000373023.2	-	3	151		c.e3-2		INPP5B_ENST00000373024.3_Splice_Site|INPP5B_ENST00000373026.1_Splice_Site|INPP5B_ENST00000373021.1_Splice_Site	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGCACCGCCTGCGGCTCAGA	0.677000													25	59					0	0	0.706142	0	0
GAB4	128954	broad.mit.edu	37	22	17445667	17445667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:17445667A>G	ENST00000400588.1	-	8	1572	c.1465T>C	c.(1465-1467)Tat>Cat	p.Y489H		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	489										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGAAAAGATACCTCTCTCCA	0.562000													16	33					0	0	0.575678	0	0
TNNI3K	51086	broad.mit.edu	37	1	75005940	75005940	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:75005940G>T	ENST00000370891.2	+	26	2693	c.2677G>T	c.(2677-2679)Ggt>Tgt	p.G893C	TNNI3K_ENST00000326637.3_Missense_Mutation_p.G792C|TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.G893C	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TTCCTCTCAAGGTCTGTCTTT	0.343000													18	63					1.22574e-08	1.50106e-08	0.624587	1	0
SCN2A	6326	broad.mit.edu	37	2	166168597	166168597	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:166168597G>T	ENST00000375437.2	+	8	1323	c.1034_splice	c.e8+1	p.G345_splice	SCN2A_ENST00000375427.2_Splice_Site_p.G345_splice|SCN2A_ENST00000357398.3_Splice_Site_p.G345_splice|SCN2A_ENST00000283256.6_Splice_Site_p.G345_splice	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	345					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCAGATGCAGGGTAAGTGAT	0.428000													14	34					1.15919e-05	1.29777e-05	0.575678	1	0
PNLDC1	154197	broad.mit.edu	37	6	160229830	160229830	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:160229830G>T	ENST00000275275.5	+	8	759	c.588G>T	c.(586-588)acG>acT	p.T196T	PNLDC1_ENST00000392167.3_Silent_p.T207T	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	196						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACATCTGGACGGTGCTGAAAG	0.562000													8	15					1.58986e-06	1.83145e-06	0.361761	1	0
METTL4	64863	broad.mit.edu	37	18	2566940	2566940	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:2566940C>G	ENST00000319888.6	-	2	1074	c.276G>C	c.(274-276)ctG>ctC	p.L92L	METTL4_ENST00000574538.1_Silent_p.L92L			Q8N3J2	METL4_HUMAN	methyltransferase like 4	92					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGACATCAAACAGTTCAGGTC	0.358000													21	70					0	0	0.706142	0	0
GABRA2	2555	broad.mit.edu	37	4	46305515	46305515	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:46305515C>A	ENST00000510861.1	-	8	991	c.818G>T	c.(817-819)tGg>tTg	p.W273L	GABRA2_ENST00000381620.4_Missense_Mutation_p.W273L|GABRA2_ENST00000514090.1_Missense_Mutation_p.W273L|GABRA2_ENST00000356504.1_Missense_Mutation_p.W273L|GABRA2_ENST00000515082.1_Missense_Mutation_p.W273L|GABRA2_ENST00000507069.1_Missense_Mutation_p.W273L|GABRA2_ENST00000540012.1_Missense_Mutation_p.W218L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	273					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTGTTAAGCCAGAATGAAAC	0.383000													43	113					6.3237e-29	1.15983e-28	0.870114	1	0
TMEM241	85019	broad.mit.edu	37	18	20878012	20878012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:20878012C>A	ENST00000383233.3	-	15	902	c.850G>T	c.(850-852)Gga>Tga	p.G284*	TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Intron	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	284						integral to membrane											AAGGCCTCTCCAAGCGCACCG	0.602000													10	63					4.36969e-10	5.5831e-10	0.435327	1	0
FRMPD1	22844	broad.mit.edu	37	9	37707437	37707437	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:37707437G>A	ENST00000539465.1	+	3	719	c.126G>A	c.(124-126)ggG>ggA	p.G42G	FRMPD1_ENST00000377765.3_Silent_p.G42G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	42						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CAGCTGATGGGCCCGCCAGGA	0.493000													24	46					0	0	0.729181	0	0
CD34	947	broad.mit.edu	37	1	208062945	208062945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:208062945C>A	ENST00000356522.4	-	5	940	c.619G>T	c.(619-621)Gga>Tga	p.G207*	CD34_ENST00000310833.7_Nonsense_Mutation_p.G207*|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Nonsense_Mutation_p.G72*|CD34_ENST00000367036.3_Nonsense_Mutation_p.G49*	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	207					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						AGGCCCTCTCCCCTGTCCTTC	0.577000													27	73					1.07121e-22	1.82587e-22	0.827153	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	169677	169677	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:169677C>G	ENST00000283426.6	+	12	2681	c.2631C>G	c.(2629-2631)ccC>ccG	p.P877P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	877	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCACTGCCCCTTGGCCGTGG	0.637000													26	85					0	0	0.769981	0	0
CSMD3	114788	broad.mit.edu	37	8	113395869	113395869	+	Silent	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:113395869T>C	ENST00000297405.5	-	37	6202	c.5958A>G	c.(5956-5958)acA>acG	p.T1986T	CSMD3_ENST00000343508.3_Silent_p.T1946T|CSMD3_ENST00000352409.3_Silent_p.T1916T|CSMD3_ENST00000455883.2_Silent_p.T1882T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1986	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTATGTTCTGTAGCAAAGC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	69					0	0	0.870114	0	0
TMEM241	85019	broad.mit.edu	37	18	20878011	20878011	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:20878011C>A	ENST00000383233.3	-	15	903	c.851G>T	c.(850-852)gGa>gTa	p.G284V	TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Intron	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	284						integral to membrane											CAAGGCCTCTCCAAGCGCACC	0.602000													10	63					4.36969e-10	5.5831e-10	0.435327	1	0
ZNF141	7700	broad.mit.edu	37	4	367593	367593	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:367593G>T	ENST00000240499.7	+	4	1516	c.1367G>T	c.(1366-1368)tGt>tTt	p.C456F	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	456					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGTAAAGATTGTGACAAAGCC	0.323000													38	80					6.5261e-18	1.02867e-17	0.840704	1	0
CCL17	6361	broad.mit.edu	37	16	57449729	57449729	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:57449729G>T	ENST00000219244.4	+	4	370	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	81					cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CAACAAGAGAGTGAAGAATGC	0.567000													22	70					7.26314e-15	1.07064e-14	0.717897	1	0
APOA4	337	broad.mit.edu	37	11	116691962	116691962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:116691962G>T	ENST00000357780.3	-	3	926	c.812C>A	c.(811-813)gCc>gAc	p.A271D		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CACGTCCTCGGCCAAGGGCGC	0.657000													15	47					6.49762e-13	9.12188e-13	0.539581	1	0
TBC1D32	221322	broad.mit.edu	37	6	121436336	121436336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:121436336C>A	ENST00000275159.6	-	28	3157	c.3158G>T	c.(3157-3159)gGc>gTc	p.G1053V	TBC1D32_ENST00000398212.2_Missense_Mutation_p.G1012V|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		CATTTTAATGCCAAGCTGCTG	0.343000													29	48					3.09479e-21	5.15366e-21	0.827153	1	0
GK2	2712	broad.mit.edu	37	4	80328605	80328605	+	Silent	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:80328605A>G	ENST00000358842.3	-	1	767	c.750T>C	c.(748-750)ggT>ggC	p.G250G		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	250					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATATTGGCACACCTTCCAGGG	0.448000													26	91					0	0	0.717897	0	0
ZFP82	284406	broad.mit.edu	37	19	36884910	36884910	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:36884910C>A	ENST00000392161.3	-	5	574	c.332G>T	c.(331-333)gGc>gTc	p.G111V	ZFP82_ENST00000392171.1_Missense_Mutation_p.G111V	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCCTTAAGGCCATGGTTTTC	0.353000													13	36					3.27435e-08	3.97315e-08	0.457914	1	0
SLC25A18	83733	broad.mit.edu	37	22	18066221	18066221	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:18066221T>A	ENST00000327451.5	+	7	868	c.330T>A	c.(328-330)tgT>tgA	p.C110*	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Nonsense_Mutation_p.C110*	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	110						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TTGCCGGGTGTGGGGCTGGGA	0.632000													24	65					0	0	0.740014	0	0
FADS3	3995	broad.mit.edu	37	11	61646223	61646223	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:61646223G>C	ENST00000540820.1	-	4	691	c.619C>G	c.(619-621)Cta>Gta	p.L207V	FADS3_ENST00000525588.1_Missense_Mutation_p.L179V|FADS3_ENST00000527697.1_Missense_Mutation_p.L83V|FADS3_ENST00000278829.2_Missense_Mutation_p.L207V			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	207					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCACCTTTAGCTGCCCCATC	0.642000													21	64					0	0	0.729181	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536137	166536137	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:166536137C>T	ENST00000314499.7	+	7	2008	c.1632C>T	c.(1630-1632)gtC>gtT	p.V544V	CSRNP3_ENST00000342316.4_Silent_p.V544V|CSRNP3_ENST00000409420.1_Silent_p.V576V	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	544					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAGGGTTTGTCTCTGCATTGA	0.448000													23	100					0	0	0.750413	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717291	142717291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:142717291C>A	ENST00000381779.4	-	2	1859	c.1634G>T	c.(1633-1635)tGg>tTg	p.W545L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.W545L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.W545L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	545	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTCCACCCACAGCTTTAA	0.468000													54	55					1.53716e-24	2.68328e-24	0.870114	1	0
PKD2	5311	broad.mit.edu	37	4	88967894	88967894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:88967894G>T	ENST00000237596.2	+	6	1486	c.1420G>T	c.(1420-1422)Gca>Tca	p.A474S	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	474						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTCTTCCTGGCAGCCTGTGA	0.383000													19	93					3.32936e-07	3.90305e-07	0.539581	1	0
AGBL1	123624	broad.mit.edu	37	15	86801251	86801251	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:86801251G>T	ENST00000441037.2	+	8	915	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	AGBL1_ENST00000421325.2_Missense_Mutation_p.G274W	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	274	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACTGAAGATGGGAAAGTGGA	0.433000													35	131					3.86236e-30	7.14986e-30	0.870114	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19704475	19704475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:19704475G>T	ENST00000284885.3	-	14	1613	c.1580C>A	c.(1579-1581)cCt>cAt	p.P527H		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	527	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAGCTCAAAAGGTCCTCCACA	0.398000													31	99					1.15183e-24	2.01507e-24	0.847076	1	0
CSMD3	114788	broad.mit.edu	37	8	113418842	113418842	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:113418842C>A	ENST00000297405.5	-	35	5964	c.5720G>T	c.(5719-5721)gGa>gTa	p.G1907V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1867V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1837V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1803V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1907	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGAATATATCCTGGATTACA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	87					8.70598e-44	1.7111e-43	0.870114	1	0
RCSD1	92241	broad.mit.edu	37	1	167666363	167666363	+	Missense_Mutation	SNP	C	C	A	rs142438914		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:167666363C>A	ENST00000367854.3	+	6	833	c.502C>A	c.(502-504)Cgc>Agc	p.R168S	RCSD1_ENST00000537350.1_Missense_Mutation_p.R138S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	168										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AATAAAAAGGCGCCCTCCCTC	0.488000													11	46					2.61681e-11	3.50081e-11	0.457914	1	0
CHM	1121	broad.mit.edu	37	X	85156168	85156168	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:85156168C>A	ENST00000357749.2	-	10	1299	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	CHM_ENST00000537751.1_Missense_Mutation_p.G276C|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	424					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATTCTCTGACCAAACTGATCT	0.373000													13	9					0.000151284	0.00016384	0.435327	1	0
ALMS1	7840	broad.mit.edu	37	2	73651855	73651855	+	Silent	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:73651855A>G	ENST00000264448.6	+	5	1173	c.1062A>G	c.(1060-1062)acA>acG	p.T354T	ALMS1_ENST00000377715.1_Silent_p.T354T|ALMS1_ENST00000409009.1_Silent_p.T312T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	354					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAAAGATACACAGTGGCCTG	0.343000													12	49					0	0	0.520397	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499738	31499738	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:31499738G>T	ENST00000330498.3	+	9	1075	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	352					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGTGTGCAGGCGCGTGTGCG	0.701000													14	36					1.00905e-13	1.44461e-13	0.575678	1	0
SCN5A	6331	broad.mit.edu	37	3	38662430	38662430	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:38662430G>T	ENST00000413689.1	-	5	708	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	SCN5A_ENST00000451551.2_Missense_Mutation_p.S172Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S172Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S172Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S172Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S172Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S172Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S172Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S172Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S172Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	172					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGACCAGAGACTCAAAGGT	0.552000													10	16					9.05144e-12	1.23161e-11	0.435327	1	0
ATP10A	57194	broad.mit.edu	37	15	25925106	25925106	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:25925106G>T	ENST00000356865.6	-	21	3993	c.3882C>A	c.(3880-3882)tcC>tcA	p.S1294S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1294					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S1294S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCCCTGGAGGGATCTGAAAA	0.483000													18	47					4.72057e-08	5.7106e-08	0.667858	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22864878	22864878	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:22864878A>T	ENST00000251822.6	+	5	1657	c.1120A>T	c.(1120-1122)Aac>Tac	p.N374Y	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.N381Y|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.N396Y|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	374	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTTACGGGGCAACGGAACAGG	0.622000													28	77					0	0	0.840704	0	0
RICTOR	253260	broad.mit.edu	37	5	39074257	39074257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:39074257C>A	ENST00000357387.3	-	2	83	c.53G>T	c.(52-54)cGg>cTg	p.R18L	RICTOR_ENST00000296782.5_Missense_Mutation_p.R18L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	18					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCTGTCATTCCGCCCTGCGCG	0.731000													25	63					2.59497e-14	3.79009e-14	0.834066	1	0
NNT	23530	broad.mit.edu	37	5	43609435	43609435	+	Silent	SNP	G	G	T	rs139937233		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:43609435G>T	ENST00000264663.5	+	2	359	c.138G>T	c.(136-138)gcG>gcT	p.A46A	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Silent_p.A46A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	46					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGTGTAAAGCGCCTGTAAAAC	0.388000													8	29					0.000274275	0.000292658	0.307466	1	0
NYAP1	222950	broad.mit.edu	37	7	100086063	100086063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:100086063G>T	ENST00000423930.1	+	4	878	c.719G>T	c.(718-720)gGg>gTg	p.G240V	NYAP1_ENST00000300179.2_Missense_Mutation_p.G240V|NYAP1_ENST00000454988.1_Missense_Mutation_p.G183V			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	240	Poly-Gly.																CCCCCTCTTGGGGGTGGGGGC	0.642000													5	19					1.23904e-05	1.37941e-05	0.184627	1	0
SERPINB11	89778	broad.mit.edu	37	18	61390705	61390705	+	RNA	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:61390705A>T	ENST00000544088.1	+	0	1313				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCCCACGGCCAAAAAGCTGTT	0.478000													8	14					0	0	0.278610	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905191	144905191	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:144905191A>T	ENST00000370490.1	+	1	5503	c.1248A>T	c.(1246-1248)gaA>gaT	p.E416D	SLITRK2_ENST00000413937.2_Missense_Mutation_p.E416D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E416D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E416D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E416D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	416						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCATTCAGGAAGGTGCCTTTA	0.418000													66	46					0	0	0.870114	0	0
LIPC	3990	broad.mit.edu	37	15	58840586	58840586	+	Missense_Mutation	SNP	C	C	T	rs121912502	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:58840586C>T	ENST00000414170.3	+	7	1153	c.866C>T	c.(865-867)tCc>tTc	p.S289F	LIPC_ENST00000299022.5_Missense_Mutation_p.S289F|LIPC_ENST00000356113.6_Missense_Mutation_p.S289F|LIPC_ENST00000433326.2_Missense_Mutation_p.S228F			P11150	LIPC_HUMAN	lipase, hepatic	289			S -> F (in HL deficiency).		cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTCATCGACTCCTTGCTGCAC	0.582000													45	99					0	0	0.870114	0	0
ABCA6	23460	broad.mit.edu	37	17	67092911	67092911	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:67092911C>A	ENST00000284425.2	-	24	3326	c.3152G>T	c.(3151-3153)gGc>gTc	p.G1051V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1051					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGTGTAGAGGCCTGAAATCCA	0.313000													6	30					0.00448238	0.00466402	0.307466	1	0
LECT2	3950	broad.mit.edu	37	5	135290479	135290479	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:135290479G>A	ENST00000274507.1	-	1	244	c.44C>T	c.(43-45)aCc>aTc	p.T15I	LECT2_ENST00000522943.1_Missense_Mutation_p.T15I|LECT2_ENST00000514447.2_Missense_Mutation_p.T15I	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	15					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGACTTACCGGTAGAAATCAG	0.363000													14	50					0	0	0.624587	0	0
LEPREL2	10536	broad.mit.edu	37	12	6946682	6946682	+	RNA	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:6946682G>A	ENST00000251761.8	+	0	1689				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						ACTTCTCCCCGGAACGGCCCC	0.657000													9	20					0	0	0.307466	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136779	80136779	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:80136779G>T	ENST00000466387.1	+	11	1636	c.912G>T	c.(910-912)gaG>gaT	p.E304D	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E304D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E304D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E304D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E304D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E338D			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	304					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGTCCCTGGAGGAGAGGCTGG	0.597000													36	88					1.00776e-21	1.69235e-21	0.870114	1	0
PCDHGC3	5098	broad.mit.edu	37	5	140856928	140856928	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140856928G>T	ENST00000308177.3	+	1	1349	c.1245G>T	c.(1243-1245)ctG>ctT	p.L415L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAGACCTGGATCGGGAGA	0.552000													20	36					2.37509e-13	3.38206e-13	0.592651	1	0
IL2RA	3559	broad.mit.edu	37	10	6063594	6063594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:6063594C>A	ENST00000379959.3	-	4	603	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	IL2RA_ENST00000256876.6_Missense_Mutation_p.V144L|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	144	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCTGCCCCACCACGAAATGA	0.517000													26	80					2.42023e-17	3.77746e-17	0.779181	1	0
FYB	2533	broad.mit.edu	37	5	39202379	39202379	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:39202379G>A	ENST00000351578.6	-	2	874	c.684C>T	c.(682-684)ccC>ccT	p.P228P	FYB_ENST00000512982.1_Silent_p.P228P|FYB_ENST00000505428.1_Silent_p.P228P|FYB_ENST00000515010.1_Silent_p.P228P|FYB_ENST00000540520.1_Silent_p.P238P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	228					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGACTCCCAGGGGAGCTGGGG	0.522000													22	58					0	0	0.639603	0	0
AOAH	313	broad.mit.edu	37	7	36552859	36552859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:36552859C>A	ENST00000431169.1	-	22	2146	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	AOAH_ENST00000538464.1_Nonstop_Mutation_p.*298L|AOAH_ENST00000535891.1_Nonstop_Mutation_p.*544L|AOAH_ENST00000258749.5_Nonstop_Mutation_p.*576L	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CTGAGAGGCTCAGTGCCCGCC	0.572000													50	136					1.931e-44	3.80464e-44	0.870114	1	0
OR5J2	282775	broad.mit.edu	37	11	55944224	55944224	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:55944224G>C	ENST00000312298.1	+	1	131	c.131G>C	c.(130-132)gGc>gCc	p.G44A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGGAATCTGGGCATGATCCTC	0.413000													77	220					0	0	0.870114	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755454	140755454	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140755454G>T	ENST00000517434.1	+	1	1804	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAGAACGCCTGGCTGTC	0.697000													28	51					2.19358e-23	3.77941e-23	0.812448	1	0
PAK7	57144	broad.mit.edu	37	20	9561310	9561310	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:9561310G>T	ENST00000378429.3	-	5	1018	c.472C>A	c.(472-474)Ccg>Acg	p.P158T	PAK7_ENST00000378423.1_Missense_Mutation_p.P158T|PAK7_ENST00000353224.5_Missense_Mutation_p.P158T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	158	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTATAATACGGATCCAGATCA	0.483000													44	180					5.12918e-33	9.67494e-33	0.870114	1	0
ANKRD1	27063	broad.mit.edu	37	10	92679983	92679983	+	Silent	SNP	G	G	T	rs147484763		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:92679983G>T	ENST00000371697.3	-	2	398	c.150C>A	c.(148-150)gcC>gcA	p.A50A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	50					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TCACAGGGTGGGCTAGAAGTG	0.522000													61	181					4.66136e-34	8.87666e-34	0.870114	1	0
CNKSR1	10256	broad.mit.edu	37	1	26510958	26510958	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:26510958G>T	ENST00000531191.1	+	11	1300	c.293G>T	c.(292-294)gGg>gTg	p.G98V	CNKSR1_ENST00000374253.5_Missense_Mutation_p.G363V|CNKSR1_ENST00000361530.6_Missense_Mutation_p.G356V			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	363	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCAGCAGGGGTAGCAGGG	0.632000													14	24					9.16793e-09	1.12618e-08	0.520397	1	0
CSN3	1448	broad.mit.edu	37	4	71115134	71115134	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:71115134C>G	ENST00000304954.3	+	4	593	c.507C>G	c.(505-507)acC>acG	p.T169T		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	169						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCACGAGCACCCCTGAGACAA	0.448000													6	42					0	0	0.278610	0	0
CIAO1	9391	broad.mit.edu	37	2	96933113	96933113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:96933113G>T	ENST00000488633.1	+	2	413	c.194G>T	c.(193-195)cGg>cTg	p.R65L	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	65					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CGCACCGTGCGGAAGGTAGCC	0.582000													38	154					1.23103e-26	2.20698e-26	0.864702	1	0
CCDC129	223075	broad.mit.edu	37	7	31683474	31683474	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:31683474G>T	ENST00000319386.3	+	11	3039	c.2046G>T	c.(2044-2046)agG>agT	p.R682S	CCDC129_ENST00000407970.3_Missense_Mutation_p.R830S|CCDC129_ENST00000451887.2_Missense_Mutation_p.R856S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R738S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	830										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAGTCTGTAGGCACTGCCTGT	0.562000													33	90					9.62906e-15	1.41677e-14	0.819951	1	0
F11	2160	broad.mit.edu	37	4	187192911	187192911	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:187192911G>T	ENST00000264692.4	+	3	537	c.204G>T	c.(202-204)gaG>gaT	p.E68D	F11_ENST00000492972.2_Missense_Mutation_p.E68D|F11_ENST00000403665.2_Missense_Mutation_p.E68D			P03951	FA11_HUMAN	coagulation factor XI	68	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CACCATCTGAGGATCCCACCC	0.423000													15	101					1.50039e-11	2.02769e-11	0.608945	1	0
CXCR4	7852	broad.mit.edu	37	2	136873268	136873268	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:136873268C>T	ENST00000409817.1	-	1	545	c.242G>A	c.(241-243)aGg>aAg	p.R81K	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R77K	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	77					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CAGGTGCAGCCTGTACTTGTC	0.502000													51	147					0	0	0.870114	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508423	106508423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:106508423G>T	ENST00000359195.3	+	2	727	c.417G>T	c.(415-417)caG>caT	p.Q139H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q139H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q139H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	139					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCTGGTGCAGCGGCACCCGC	0.642000													12	19					3.07112e-06	3.48732e-06	0.387290	1	0
PDE1B	5153	broad.mit.edu	37	12	54943709	54943709	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:54943709C>A	ENST00000243052.3	+	2	489	c.53C>A	c.(52-54)cCg>cAg	p.P18Q		NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	18					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCGGATTGCCCGTCACCCCTG	0.622000													19	45					8.24728e-16	1.23915e-15	0.681144	1	0
ADCY2	108	broad.mit.edu	37	5	7766918	7766918	+	Splice_Site	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:7766918C>T	ENST00000338316.4	+	17	2302	c.2214_splice	c.e17+1	p.P738_splice	ADCY2_ENST00000537121.1_Splice_Site_p.P558_splice	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	738					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTTCCTCCCGGTAAGAACA	0.428000													74	229					0	0	0.870114	0	0
NFKB1	4790	broad.mit.edu	37	4	103528835	103528835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:103528835C>A	ENST00000226574.4	+	19	2621	c.2154C>A	c.(2152-2154)taC>taA	p.Y718*	NFKB1_ENST00000600343.1_Nonsense_Mutation_p.Y537*|NFKB1_ENST00000505458.1_Nonsense_Mutation_p.Y717*|NFKB1_ENST00000394820.4_Nonsense_Mutation_p.Y717*	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	717	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GTACTACCTACGATGGAACCA	0.532000													44	273					2.91325e-39	5.65597e-39	0.870114	1	0
TECPR1	25851	broad.mit.edu	37	7	97857416	97857416	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:97857416C>G	ENST00000447648.2	-	17	2722	c.2423G>C	c.(2422-2424)aGc>aCc	p.S808T	TECPR1_ENST00000542604.1_Missense_Mutation_p.S738T|TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.S809T			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	808						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTACTGGTGCTGCTGGCCAG	0.582000													9	21					0	0	0.435327	0	0
GATA5	140628	broad.mit.edu	37	20	61040929	61040929	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:61040929G>C	ENST00000252997.2	-	5	935	c.874C>G	c.(874-876)Cgg>Ggg	p.R292G		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	292					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			TTTGGCTTCCGCTTCCGTGTC	0.682000													4	4					0	0	0.217242	0	0
ADORA2A	135	broad.mit.edu	37	22	24837256	24837256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:24837256G>T	ENST00000337539.7	+	3	1497	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	346					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGGAGTGTGGGCCAACGGCA	0.672000													4	10					1.024e-07	1.23127e-07	0.184627	1	0
TMCO4	255104	broad.mit.edu	37	1	20063935	20063935	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:20063935G>A	ENST00000294543.6	-	13	1435	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	TMCO4_ENST00000375127.1_Silent_p.V398V|TMCO4_ENST00000375122.2_Silent_p.V358V|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	398						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAATCAAGGTGACAGGTCGTC	0.517000													15	79					0	0	0.500413	0	0
KLHL5	51088	broad.mit.edu	37	4	39105095	39105095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:39105095G>T	ENST00000261425.3	+	8	1641	c.1489G>T	c.(1489-1491)Gtg>Ttg	p.V497L	KLHL5_ENST00000504108.1_Missense_Mutation_p.V543L|KLHL5_ENST00000261426.5_Missense_Mutation_p.V482L|KLHL5_ENST00000359687.2_Missense_Mutation_p.V543L|KLHL5_ENST00000508137.2_Missense_Mutation_p.V356L|KLHL5_ENST00000381930.3_Missense_Mutation_p.V543L	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	543						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AACTTGGAGTGTGATGCCACC	0.428000													25	87					6.50621e-10	8.29959e-10	0.769981	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292278	18292278	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:18292278G>T	ENST00000377369.2	+	12	2211	c.1938G>T	c.(1936-1938)ttG>ttT	p.L646F	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L609F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L512F|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L645F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	646					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTTATCCTTGGTTGAAATGG	0.368000													26	94					1.75199e-13	2.49925e-13	0.717897	1	0
WDR96	80217	broad.mit.edu	37	10	105891157	105891157	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:105891157G>C	ENST00000357060.3	-	37	4878	c.4763C>G	c.(4762-4764)gCc>gGc	p.A1588G	WDR96_ENST00000428666.1_Missense_Mutation_p.A1560G	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1588										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGCTTAGGGCATAATTTGC	0.353000													17	38					0	0	0.639603	0	0
CNBD2	140894	broad.mit.edu	37	20	34568544	34568544	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:34568544G>T	ENST00000373973.3	+	4	580	c.407_splice	c.e4+1	p.R136_splice	CNBD2_ENST00000349339.1_Splice_Site_p.R136_splice|CNBD2_ENST00000538900.1_Splice_Site_p.R136_splice					cyclic nucleotide binding domain containing 2																		CGCTTTGAACGGTCAGTGAGG	0.592000													19	36					9.57634e-11	1.26205e-10	0.654019	1	0
AGXT	189	broad.mit.edu	37	2	241808780	241808780	+	Splice_Site	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:241808780G>T	ENST00000307503.3	+	2	745		c.e2+1			NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase						glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGCGCATAGGTAAGGGAGAG	0.657000													19	41					9.57634e-11	1.26205e-10	0.654019	1	0
LECT1	11061	broad.mit.edu	37	13	53313274	53313274	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:53313274G>T	ENST00000448904.2	-	2	215	c.105C>A	c.(103-105)agC>agA	p.S35R	LECT1_ENST00000377962.3_Missense_Mutation_p.S35R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	35					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GCCGCGCGGGGCTGGAGGGCT	0.706000													3	17					0.004672	0.00484865	0.115264	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627720	43627720	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:43627720C>A	ENST00000332857.6	-	4	995	c.967G>T	c.(967-969)Gat>Tat	p.D323Y		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTCTGGCCATCAGAGCTGAGC	0.478000													69	147					3.83446e-41	7.49933e-41	0.870114	1	0
RFC1	5981	broad.mit.edu	37	4	39290448	39290448	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:39290448G>A	ENST00000381897.1	-	25	3513	c.3380C>T	c.(3379-3381)tCa>tTa	p.S1127L	RFC1_ENST00000349703.2_Missense_Mutation_p.S1126L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1127					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			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGAAGGCTTTGAAGATTTTGT	0.323000													13	23					0	0	0.557998	0	0
GNAO1	2775	broad.mit.edu	37	16	56377778	56377778	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:56377778G>T	ENST00000262494.7	+	8	1241	c.981G>T	c.(979-981)acG>acT	p.T327T	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	327					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCTGCGCCACGGACACCAACA	0.577000													17	69					2.79863e-10	3.63411e-10	0.681144	1	0
COL2A1	1280	broad.mit.edu	37	12	48387830	48387830	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:48387830C>A	ENST00000380518.3	-	13	981	c.816_splice	c.e13-1	p.G273_splice	COL2A1_ENST00000337299.6_Splice_Site_p.G204_splice	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	273	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACGAGCACCCTGCAATCCA	0.567000													79	155					8.92586e-32	1.67176e-31	0.870114	1	0
CDT1	81620	broad.mit.edu	37	16	88873713	88873713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:88873713C>T	ENST00000301019.4	+	9	1919	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	434					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GGCACAGAAGCAGCTGGCACA	0.667000													12	34					0	0	0.500413	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725500	140725500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140725500G>C	ENST00000253812.6	+	1	1900	c.1900G>C	c.(1900-1902)Gac>Cac	p.D634H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCTGCTGGACAGAGACGC	0.706000													31	71					0	0	0.870114	0	0
LPGAT1	9926	broad.mit.edu	37	1	211952321	211952321	+	Missense_Mutation	SNP	T	T	C	rs142619502	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:211952321T>C	ENST00000366997.4	-	6	1019	c.793A>G	c.(793-795)Ata>Gta	p.I265V	LPGAT1_ENST00000366996.1_Missense_Mutation_p.I265V	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	265					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TGAATATCTATAGGTTCAGCT	0.343000													25	97					0	0	0.788014	0	0
TM9SF3	56889	broad.mit.edu	37	10	98311022	98311022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:98311022C>G	ENST00000371142.4	-	7	1155	c.939G>C	c.(937-939)atG>atC	p.M313I	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	313						integral to membrane	binding	p.M313I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AATCTTCTATCATTGCAACAA	0.318000													39	105					0	0	0.870114	0	0
HDAC4	9759	broad.mit.edu	37	2	239975197	239975197	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:239975197G>A	ENST00000345617.3	-	26	3965	c.3174C>T	c.(3172-3174)gcC>gcT	p.A1058A	HDAC4_ENST00000543185.1_Silent_p.A642A	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1058	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGAGGCCATGGCGGTGACCG	0.667000													14	45					0	0	0.520397	0	0
LPA	4018	broad.mit.edu	37	6	160978525	160978525	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:160978525C>A	ENST00000447678.1	-	30	4830	c.4710G>T	c.(4708-4710)agG>agT	p.R1570S	LPA_ENST00000316300.5_Missense_Mutation_p.R1570S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4078	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTACTCCCACCTCACACACG	0.488000													29	78					2.85442e-18	4.53516e-18	0.750413	1	0
CIR1	9541	broad.mit.edu	37	2	175213676	175213676	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:175213676C>G	ENST00000342016.3	-	10	994	c.902G>C	c.(901-903)gGg>gCg	p.G301A	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	301	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GTTGTTATGCCCTGAACACtt	0.373000													18	68					0	0	0.575678	0	0
PSG8	440533	broad.mit.edu	37	19	43268370	43268370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:43268370G>T	ENST00000404209.4	-	2	224	c.128C>A	c.(127-129)aCc>aAc	p.T43N	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.T43N|PSG8_ENST00000401467.2_Missense_Mutation_p.T43N	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	43	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGAAACTTTGGTTGGCTGGGC	0.483000													78	121					2.56433e-40	5.00295e-40	0.870114	1	0
LRCH1	23143	broad.mit.edu	37	13	47286680	47286680	+	Silent	SNP	A	A	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:47286680A>C	ENST00000311191.6	+	15	1831	c.1602A>C	c.(1600-1602)gcA>gcC	p.A534A	LRCH1_ENST00000389797.3_Silent_p.A534A|LRCH1_ENST00000389798.3_Silent_p.A534A	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	534										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACTCCCCTGCAGTCTCTCCTA	0.398000													49	80					0	0	0.870114	0	0
SALL4	57167	broad.mit.edu	37	20	50407760	50407760	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:50407760G>A	ENST00000217086.4	-	2	1373	c.1262C>T	c.(1261-1263)aCc>aTc	p.T421I	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	421					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCCCTTGGTGGTGAAGCG	0.577000													12	54					0	0	0.479597	0	0
STOML3	161003	broad.mit.edu	37	13	39544448	39544448	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:39544448C>A	ENST00000379631.4	-	5	734	c.390G>T	c.(388-390)gtG>gtT	p.V130V	STOML3_ENST00000423210.1_Silent_p.V121V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	130						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGACATTAGCCACTGCTGAGA	0.463000													45	106					4.37618e-36	8.41411e-36	0.870114	1	0
MS4A14	84689	broad.mit.edu	37	11	60183265	60183265	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:60183265A>C	ENST00000300187.6	+	5	1101	c.824A>C	c.(823-825)aAa>aCa	p.K275T	MS4A14_ENST00000395005.2_Missense_Mutation_p.K258T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.K163T|MS4A14_ENST00000531783.1_Missense_Mutation_p.K308T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	275						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAACAAATGAAAGATGAAGAT	0.393000													9	36					0	0	0.411799	0	0
GPR63	81491	broad.mit.edu	37	6	97246748	97246748	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:97246748T>A	ENST00000229955.3	-	2	1205	c.860A>T	c.(859-861)cAg>cTg	p.Q287L	GPR63_ENST00000417980.1_Missense_Mutation_p.Q287L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	287						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TTTGCTGGCCTGGCTGAGGCA	0.473000													15	42					0	0	0.520397	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687632	3687632	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:3687632C>A	ENST00000250699.2	-	5	1129	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	353					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGGCTCCCCTCTTTCCCGCAC	0.682000													18	55					1.28384e-07	1.52528e-07	0.608945	1	0
CRIM1	51232	broad.mit.edu	37	2	36706676	36706676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:36706676A>C	ENST00000280527.2	+	7	1578	c.1211A>C	c.(1210-1212)tAt>tCt	p.Y404S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	404	VWFC 2.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCTGGCTGCTATGCCAATGGC	0.512000													25	83					0	0	0.796494	0	0
FAM120A	23196	broad.mit.edu	37	9	96278483	96278483	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:96278483C>T	ENST00000277165.6	+	7	1544	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	FAM120A_ENST00000340893.4_Silent_p.S450S|FAM120A_ENST00000375389.3_Silent_p.S450S|FAM120A_ENST00000333936.5_Silent_p.S450S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	450						cytoplasm|plasma membrane	RNA binding	p.S450S(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGTGGATTCCGCCTACTTCC	0.622000													14	24					0	0	0.608945	0	0
C16orf82	162083	broad.mit.edu	37	16	27078356	27078356	+	RNA	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:27078356G>T	ENST00000505035.1	+	0	329				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			TTTTCTCGAGGGAGAAAAAGG	0.587000													8	24					0.000274275	0.000292658	0.307466	1	0
SGCZ	137868	broad.mit.edu	37	8	14022158	14022158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:14022158C>G	ENST00000382080.1	-	5	1193	c.478G>C	c.(478-480)Gat>Cat	p.D160H	SGCZ_ENST00000421524.2_Missense_Mutation_p.D113H|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	147					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCTGCCATCTTCACTGGCT	0.423000													22	34					0	0	0.729181	0	0
FKBP4	2288	broad.mit.edu	37	12	2906343	2906343	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:2906343A>G	ENST00000001008.4	+	2	332	c.145A>G	c.(145-147)Att>Gtt	p.I49V	FKBP4_ENST00000540260.1_3'UTR|RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	49					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GATGCCCATGATTGGGGACCG	0.542000													28	64					0	0	0.779181	0	0
FAM221B	392307	broad.mit.edu	37	9	35825243	35825243	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:35825243C>T	ENST00000423537.2	-	3	995	c.726G>A	c.(724-726)ctG>ctA	p.L242L	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	242										endometrium(2)|kidney(1)|lung(4)	7						GGATGGCATTCAGGGCTGCAT	0.522000													19	34					0	0	0.639603	0	0
CNGA2	1260	broad.mit.edu	37	X	150911821	150911821	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:150911821C>G	ENST00000329903.4	+	6	879	c.846C>G	c.(844-846)atC>atG	p.I282M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	282					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTACATCTTGGTCATCA	0.507000													54	71					0	0	0.870114	0	0
USP9Y	8287	broad.mit.edu	37	Y	14890150	14890150	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrY:14890150A>T	ENST00000338981.3	+	20	3782	c.2837A>T	c.(2836-2838)gAt>gTt	p.D946V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	946				D -> N (in Ref. 3; CAA73940/CAA73941).	BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATTCTGAAGATGACAGAAAG	0.318000													10	0					0	0	0.335167	0	0
RNF150	57484	broad.mit.edu	37	4	141789475	141789475	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:141789475C>A	ENST00000306799.3	-	7	1784	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	RNF150_ENST00000379512.2_Missense_Mutation_p.E278D|RNF150_ENST00000420921.2_Missense_Mutation_p.E278D|RNF150_ENST00000515673.1_Missense_Mutation_p.E419D	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	419						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACAGTCCAACCTCCATTGCCA	0.468000													8	44					0.0477658	0.0485588	0.307466	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33637804	33637804	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:33637804C>A	ENST00000504830.1	-	12	2101	c.1766G>T	c.(1765-1767)cGc>cTc	p.R589L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R589L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	589	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTGCACAAGCGATAGCGTTT	0.463000										HNSCC(64;0.19)			12	37					2.23348e-06	2.55439e-06	0.500413	1	0
CDH13	1012	broad.mit.edu	37	16	82891972	82891972	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:82891972G>T	ENST00000566620.1	+	2	341	c.51G>T	c.(49-51)ctG>ctT	p.L17L	CDH13_ENST00000431540.3_Silent_p.L17L|CDH13_ENST00000446376.2_Silent_p.L17L|CDH13_ENST00000268613.10_Silent_p.L64L|CDH13_ENST00000567445.1_Silent_p.L17L|CDH13_ENST00000428848.3_Silent_p.L17L|CDH13_ENST00000565636.1_Silent_p.L17L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	17					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTCAGGTGCTGCTGCTAACAT	0.433000													8	44					1.12685e-05	1.26334e-05	0.307466	1	0
KRT36	8689	broad.mit.edu	37	17	39643253	39643253	+	Missense_Mutation	SNP	A	A	T	rs137881249		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:39643253A>T	ENST00000393986.2	-	7	1219	c.1007T>A	c.(1006-1008)cTg>cAg	p.L336Q	KRT36_ENST00000328119.6_Missense_Mutation_p.L386Q			O76013	KRT36_HUMAN	keratin 36	386	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTCGCCCTCCAGCCGGGCCTT	0.632000													46	112					0	0	0.870114	0	0
HYDIN	54768	broad.mit.edu	37	16	71096192	71096192	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:71096192G>T	ENST00000393567.2	-	17	2406	c.2256C>A	c.(2254-2256)ccC>ccA	p.P752P	HYDIN_ENST00000448691.1_Silent_p.P752P|HYDIN_ENST00000448089.2_Silent_p.P752P|HYDIN_ENST00000321489.5_Silent_p.P752P|HYDIN_ENST00000541601.1_Silent_p.P769P|HYDIN_ENST00000538248.1_Silent_p.P779P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	752										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGACCCCGCTGGGGGTGGGGC	0.552000													5	8					3.59834e-05	3.95618e-05	0.217242	1	0
RHOA	387	broad.mit.edu	37	3	49405928	49405928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:49405928C>G	ENST00000418115.1	-	3	594	c.210G>C	c.(208-210)agG>agC	p.R70S	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.R70S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	70					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGAGAGGGGCCTCAGGCGAT	0.498000													56	71					0	0	0.870114	0	0
TNRC18	84629	broad.mit.edu	37	7	5352383	5352383	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:5352383C>T	ENST00000399537.4	-	27	8487	c.8139G>A	c.(8137-8139)tcG>tcA	p.S2713S	TNRC18_ENST00000430969.1_Silent_p.S2713S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2713							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGAGTGGGCCGAGGGCCGCG	0.761000													4	6					0	0	0.150653	0	0
NELL1	4745	broad.mit.edu	37	11	21556038	21556038	+	Silent	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:21556038A>T	ENST00000298925.5	+	17	2001	c.1848A>T	c.(1846-1848)tcA>tcT	p.S616S	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.S531S|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.S588S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	588	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGACCTATTCACTGTCCGGGG	0.542000													32	89					0	0	0.819951	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939016	2939016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:2939016C>A	ENST00000378404.2	+	1	971	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	256						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGGGACCCGCTGCACCAGGC	0.662000													16	36					1.99824e-07	2.36344e-07	0.520397	1	0
ELP4	26610	broad.mit.edu	37	11	31531349	31531349	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:31531349C>T	ENST00000395934.2	+	1	25	c.18C>T	c.(16-18)acC>acT	p.T6T	ELP4_ENST00000350638.5_Silent_p.T6T|ELP4_ENST00000379163.5_Silent_p.T6T			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	6					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CAGTGGCAACCTGCGGTAGTG	0.582000													10	31					0	0	0.361761	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685253	125685253	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:125685253C>A	ENST00000371126.1	-	1	1581	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	447								p.G447W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAGGCCCCCCAGCCACAAAG	0.527000													45	27					5.10508e-28	9.2566e-28	0.870114	1	0
PCDHB16	57717	broad.mit.edu	37	5	140564277	140564277	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140564277A>T	ENST00000361016.2	+	1	3298	c.2143A>T	c.(2143-2145)Agg>Tgg	p.R715W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		715					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTGTGCAGGAGGAGCAG	0.677000													38	65					0	0	0.853193	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851274	31851274	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:31851274T>G	ENST00000382902.1	-	3	540	c.448A>C	c.(448-450)Aca>Cca	p.T150P	OTUD7A_ENST00000307050.4_Missense_Mutation_p.T150P			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	150						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AACTGGAATGTGTAGATTGGC	0.582000													17	30					0	0	0.539581	0	0
CNTRL	11064	broad.mit.edu	37	9	123898152	123898152	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:123898152G>T	ENST00000373855.1	+	15	2354	c.2094G>T	c.(2092-2094)caG>caT	p.Q698H	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q698H|CNTRL_ENST00000373847.1_Missense_Mutation_p.Q146H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q146H			Q7Z7A1	CNTRL_HUMAN	centriolin	698					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCAGACCCAGGGAGATCTCA	0.488000													16	51					5.03518e-11	6.68001e-11	0.557998	1	0
TRPV2	51393	broad.mit.edu	37	17	16326793	16326793	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:16326793C>A	ENST00000338560.7	+	5	1035	c.636C>A	c.(634-636)ccC>ccA	p.P212P	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	212	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTGAGCTACCCCTCTCTTTGG	0.622000													11	34					5.50884e-06	6.21991e-06	0.411799	1	0
C1orf173	127254	broad.mit.edu	37	1	75038558	75038558	+	Nonsense_Mutation	SNP	C	C	A	rs74543698		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:75038558C>A	ENST00000326665.5	-	14	3054	c.2836G>T	c.(2836-2838)Gaa>Taa	p.E946*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	946	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTCCTCTTCACTTTCTCCG	0.552000													30	98					1.4065e-29	2.5916e-29	0.788014	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581420	140581420	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140581420G>T	ENST00000354757.3	+	1	2073	c.2073G>T	c.(2071-2073)gtG>gtT	p.V691V	PCDHB11_ENST00000536699.1_Silent_p.V326V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		691					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTACTTGGTGGTGGCGTTGG	0.682000													60	108					5.89852e-23	1.00972e-22	0.870114	1	0
ABCC9	10060	broad.mit.edu	37	12	22028652	22028652	+	Silent	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:22028652A>G	ENST00000261200.4	-	15	2027	c.2028T>C	c.(2026-2028)aaT>aaC	p.N676N	ABCC9_ENST00000261201.4_Silent_p.N676N|ABCC9_ENST00000345162.2_Silent_p.N640N|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	676	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAGTATCCATTTGTGACCT	0.308000													23	45					0	0	0.729181	0	0
ACAN	176	broad.mit.edu	37	15	89415260	89415260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:89415260G>T	ENST00000439576.2	+	15	7506	c.7132G>T	c.(7132-7134)Ggc>Tgc	p.G2378C	ACAN_ENST00000352105.7_Missense_Mutation_p.G2340C|ACAN_ENST00000561243.1_Missense_Mutation_p.G2378C|ACAN_ENST00000559004.1_Missense_Mutation_p.G2340C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2378					cell adhesion		hyaluronic acid binding|sugar binding	p.G2264S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGGATCGGCCTGAACGA	0.592000													47	140					1.45723e-30	2.71017e-30	0.870114	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	34					0	0	0.115264	0	0
EPB42	2038	broad.mit.edu	37	15	43489635	43489635	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:43489635G>C	ENST00000300215.3	-	13	2488	c.2031C>G	c.(2029-2031)acC>acG	p.T677T	EPB42_ENST00000563128.1_Intron|EPB42_ENST00000441366.2_Silent_p.T647T|EPB42_ENST00000540029.1_Silent_p.T569T			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	647					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCACACATGGTGTTTTCAG	0.483000													17	39					0	0	0.667858	0	0
RP1	6101	broad.mit.edu	37	8	55540477	55540477	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:55540477A>T	ENST00000220676.1	+	4	4183	c.4035A>T	c.(4033-4035)ttA>ttT	p.L1345F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1345					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGACTTTTTAAACTCCAAAG	0.383000													22	71					0	0	0.717897	0	0
MAST3	23031	broad.mit.edu	37	19	18258419	18258419	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:18258419C>T	ENST00000262811.5	+	26	3379	c.3379C>T	c.(3379-3381)Cct>Tct	p.P1127S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1127	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AAGCCCAGCCCCTGATGTCCC	0.706000													4	5					0	0	0.184627	0	0
KALRN	8997	broad.mit.edu	37	3	124153186	124153186	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:124153186G>T	ENST00000360013.3	+	17	2983	c.2856G>T	c.(2854-2856)acG>acT	p.T952T	KALRN_ENST00000240874.3_Silent_p.T952T|KALRN_ENST00000460856.1_Silent_p.T943T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCAGAAGACGCACCAGAGTG	0.612000													37	37					4.10826e-27	7.39859e-27	0.870114	1	0
OGFOD3	79701	broad.mit.edu	37	17	80361846	80361846	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:80361846C>A	ENST00000313056.5	-	7	817	c.666G>T	c.(664-666)gcG>gcT	p.A222A	OGFOD3_ENST00000329197.5_Silent_p.A222A	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		ACTCGTCGTGCGCCGTCCGCG	0.642000													7	18					0.335167	0.336012	0.335167	1	0
DBX2	440097	broad.mit.edu	37	12	45429840	45429840	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:45429840C>A	ENST00000332700.6	-	2	632	c.461G>T	c.(460-462)gGg>gTg	p.G154V		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ccgacaggacccaccgcagca	0.478000													13	16					2.23348e-06	2.55439e-06	0.500413	1	0
LRRN1	57633	broad.mit.edu	37	3	3886639	3886639	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:3886639A>T	ENST00000319331.3	+	2	1075	c.314A>T	c.(313-315)aAc>aTc	p.N105I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	105						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCTCCCAAAACAACTTTACT	0.438000													20	18					0	0	0.639603	0	0
OR52J3	119679	broad.mit.edu	37	11	5068425	5068425	+	Missense_Mutation	SNP	C	C	A	rs142062445	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:5068425C>A	ENST00000380370.1	+	1	670	c.670C>A	c.(670-672)Cgt>Agt	p.R224S		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTACATTCTCCGTGCTGTCTT	0.448000													43	106					2.17126e-26	3.87516e-26	0.870114	1	0
SYT14	255928	broad.mit.edu	37	1	210273447	210273447	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:210273447G>C	ENST00000537238.1	+	7	1082	c.691G>C	c.(691-693)Gac>Cac	p.D231H	SYT14_ENST00000367019.1_Missense_Mutation_p.D269H|SYT14_ENST00000399639.2_Missense_Mutation_p.D269H|SYT14_ENST00000367015.1_Missense_Mutation_p.D231H|SYT14_ENST00000472886.1_Missense_Mutation_p.D269H|SYT14_ENST00000422431.1_Missense_Mutation_p.D314H|SYT14_ENST00000534859.1_Missense_Mutation_p.D269H|SYT14_ENST00000271745.7_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	269						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGTGACTTTTGACTATGACTC	0.443000													9	44					0	0	0.457914	0	0
CPS1	1373	broad.mit.edu	37	2	211507222	211507222	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:211507222T>C	ENST00000233072.5	+	25	3170	c.2974T>C	c.(2974-2976)Ttt>Ctt	p.F992L	CPS1_ENST00000451903.2_Missense_Mutation_p.F541L|CPS1_ENST00000430249.2_Missense_Mutation_p.F998L|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	992					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGTGTGGAATTTGATTGGTG	0.458000													25	89					0	0	0.788014	0	0
CHM	1121	broad.mit.edu	37	X	85302486	85302486	+	Splice_Site	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:85302486A>T	ENST00000357749.2	-	1	79		c.e1+1		CHM_ENST00000537751.1_Splice_Site|CHM_ENST00000358786.4_Splice_Site	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)						intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GGCTACACATACCCGTCCCTA	0.463000													8	8					0	0	0.307466	0	0
KIF19	124602	broad.mit.edu	37	17	72349637	72349637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:72349637C>T	ENST00000389916.4	+	17	2363	c.2225C>T	c.(2224-2226)cCg>cTg	p.P742L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	742					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCACAGGCCCCGGCTCAGGAC	0.622000													11	51					0	0	0.435327	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878681	79878681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:79878681G>T	ENST00000361291.4	+	2	101	c.101G>T	c.(100-102)aGc>aTc	p.S34I	CTNNA2_ENST00000409266.1_5'UTR|CTNNA2_ENST00000496558.1_5'UTR|CTNNA2_ENST00000402739.4_5'UTR|CTNNA2_ENST00000466387.1_5'UTR			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCATAGGGAGCATGACTTCG	0.388000													17	43					7.41877e-09	9.15557e-09	0.608945	1	0
ITPRIP	85450	broad.mit.edu	37	10	106075442	106075442	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:106075442A>T	ENST00000278071.2	-	3	820	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	ITPRIP_ENST00000337478.1_Missense_Mutation_p.L123Q|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L123Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	123						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CAGCCCAGGCAGCTCATCCTC	0.672000													26	72					0	0	0.681144	0	0
SLC43A3	29015	broad.mit.edu	37	11	57177451	57177451	+	Missense_Mutation	SNP	G	G	A	rs150725321		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:57177451G>A	ENST00000395123.2	-	12	1508	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	SLC43A3_ENST00000395124.1_Missense_Mutation_p.R402C|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.R46C|SLC43A3_ENST00000529554.1_Missense_Mutation_p.R402C|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R415C|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R402C	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	402					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGGAAGGAGCGGCTGATCACT	0.622000													10	28					0	0	0.457914	0	0
OPTN	10133	broad.mit.edu	37	10	13169748	13169748	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:13169748G>A	ENST00000378748.3	+	13	1608	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	OPTN_ENST00000378757.2_Missense_Mutation_p.E416K|OPTN_ENST00000378747.3_Missense_Mutation_p.E416K|OPTN_ENST00000378764.2_Missense_Mutation_p.E410K|OPTN_ENST00000378752.3_Missense_Mutation_p.E410K|OPTN_ENST00000263036.5_Missense_Mutation_p.E416K	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	416	Interaction with HD.|Interaction with MYO6.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTTCAGTCAGAAAAAGTGGA	0.353000													10	34					0	0	0.361761	0	0
OR5D13	390142	broad.mit.edu	37	11	55540951	55540951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:55540951C>A	ENST00000361760.1	+	1	38	c.38C>A	c.(37-39)aCt>aAt	p.T13N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGCACACCCACTTTTATTCTC	0.393000													29	89					7.62715e-32	1.43189e-31	0.834066	1	0
FLG	2312	broad.mit.edu	37	1	152277749	152277749	+	Missense_Mutation	SNP	A	A	G	rs71625182		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:152277749A>G	ENST00000368799.1	-	3	9648	c.9613T>C	c.(9613-9615)Tcc>Ccc	p.S3205P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3205	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCCTGGACCCCTCTGAT	0.562000									Ichthyosis				7	107					0	0	0.500413	0	0
PRG4	10216	broad.mit.edu	37	1	186276447	186276447	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:186276447C>A	ENST00000445192.2	+	7	1641	c.1596C>A	c.(1594-1596)acC>acA	p.T532T	PRG4_ENST00000367486.3_Silent_p.T489T|PRG4_ENST00000367485.4_Silent_p.T439T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T491T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	532	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACTACCAAGG	0.637000													8	71					1.06961e-07	1.27648e-07	0.278610	1	0
PRDX1	5052	broad.mit.edu	37	1	45981452	45981452	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:45981452G>A	ENST00000262746.1	-	3	473	c.134C>T	c.(133-135)cCt>cTt	p.P45L	PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.P45L|PRDX1_ENST00000483583.1_5'UTR	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	45	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GAAGTCAAGAGGGTAAAAGAA	0.413000													19	84					0	0	0.693898	0	0
DGKI	9162	broad.mit.edu	37	7	137151665	137151665	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:137151665G>T	ENST00000453654.1	-	26	2160	c.1621C>A	c.(1621-1623)Cga>Aga	p.R541R	DGKI_ENST00000424189.2_Silent_p.R844R|DGKI_ENST00000446122.1_Intron|DGKI_ENST00000288490.5_Intron			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	832					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGTCTATTCGATAAAAGCGA	0.358000													8	57					3.07112e-06	3.48732e-06	0.387290	1	0
IGKV6-21	28906	broad.mit.edu	37	2	89459381	89459381	+	RNA	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:89459381G>C	ENST00000390256.2	-	0	259																											TACTTGATGAGGAGCTTTGGA	0.532000													31	66					0	0	0.853193	0	0
PGAP2	27315	broad.mit.edu	37	11	3846617	3846617	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:3846617A>G	ENST00000278243.4	+	7	1078	c.877A>G	c.(877-879)Atg>Gtg	p.M293V	PGAP2_ENST00000396991.2_Missense_Mutation_p.M293V|PGAP2_ENST00000465307.2_3'UTR|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396986.2_Missense_Mutation_p.M289V|PGAP2_ENST00000496834.2_Missense_Mutation_p.M76V|PGAP2_ENST00000493547.2_3'UTR|PGAP2_ENST00000463452.2_Missense_Mutation_p.M232V|PGAP2_ENST00000300730.6_Missense_Mutation_p.M285V|PGAP2_ENST00000396993.4_3'UTR|PGAP2_ENST00000479072.1_Missense_Mutation_p.M72V	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	293					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GGCGTTCCACATGACGGCCTG	0.522000											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0	0	0.592651	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570294	61570294	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:61570294A>C	ENST00000457692.1	+	9	1336	c.1003A>C	c.(1003-1005)Aag>Cag	p.K335Q	SERPINB2_ENST00000299502.4_Missense_Mutation_p.K335Q	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	335					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGCCTTCAACAAGGGACGGGC	0.473000													23	69					0	0	0.693898	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734015	16734015	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrY:16734015G>C	ENST00000297967.5	+	1	115	c.16G>C	c.(16-18)Gga>Cga	p.G6R	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	6					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GCGTCCCCAGGGACTGCTATG	0.493000													32	16					0	0	0.804634	0	0
ZFHX3	463	broad.mit.edu	37	16	72827573	72827573	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:72827573T>A	ENST00000268489.5	-	9	9680	c.9008A>T	c.(9007-9009)aAg>aTg	p.K3003M	ZFHX3_ENST00000397992.5_Missense_Mutation_p.K2089M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3003					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TAACTTGGACTTCTTTTCTTT	0.483000													56	106					0	0	0.870114	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944865	74944865	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:74944865G>T	ENST00000569840.2	+	18	2898	c.2324G>T	c.(2323-2325)tGc>tTc	p.C775F	MGAT5B_ENST00000301618.4_Missense_Mutation_p.C773F|MGAT5B_ENST00000428789.2_Missense_Mutation_p.C784F	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	775						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCGGCTCTGCCCCTGCCGC	0.682000													4	11					0.0293803	0.0299446	0.248553	1	0
LNX1	84708	broad.mit.edu	37	4	54362196	54362196	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:54362196C>G	ENST00000306888.2	-	5	1307	c.1056G>C	c.(1054-1056)ctG>ctC	p.L352L	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Silent_p.L448L	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	448	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCACCTGAATCAGATGAGCCG	0.522000													25	104					0	0	0.760397	0	0
FAN1	22909	broad.mit.edu	37	15	31212791	31212791	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:31212791G>C	ENST00000362065.4	+	7	2278	c.1987G>C	c.(1987-1989)Ggg>Cgg	p.G663R		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	663					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTTCACTGTTGGGTGGATTTA	0.398000								Direct reversal of damage					34	76					0	0	0.859065	0	0
CUX2	23316	broad.mit.edu	37	12	111742070	111742070	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:111742070C>A	ENST00000261726.6	+	10	964	c.810C>A	c.(808-810)gtC>gtA	p.V270V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGCCTCTGTCAACAGCTCCA	0.652000													14	33					1.56452e-12	2.18484e-12	0.557998	1	0
NPAS4	266743	broad.mit.edu	37	11	66189683	66189683	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:66189683G>T	ENST00000311034.2	+	2	444	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	90	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGTGTTCACAGCCGAGGGGAA	0.597000													31	93					9.17885e-22	1.54469e-21	0.779181	1	0
NLGN4X	57502	broad.mit.edu	37	X	6069453	6069453	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:6069453C>A	ENST00000381095.3	-	2	682	c.55G>T	c.(55-57)Gtc>Ttc	p.V19F	NLGN4X_ENST00000538097.1_Missense_Mutation_p.V19F|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V19F|NLGN4X_ENST00000275857.6_Missense_Mutation_p.V19F|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V19F|NLGN4X_ENST00000469740.1_5'UTR	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	19					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTTAACATGACGCAGACCGGG	0.498000													29	24					1.836e-18	2.94649e-18	0.788014	1	0
PROCA1	147011	broad.mit.edu	37	17	27031367	27031367	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:27031367A>T	ENST00000301039.2	-	3	507	c.314T>A	c.(313-315)cTc>cAc	p.L105H	PROCA1_ENST00000439862.3_Missense_Mutation_p.L107H|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	133					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CTCCGGTGTGAGCTCAAAGCA	0.647000													88	247					0	0	0.870114	0	0
KCNV1	27012	broad.mit.edu	37	8	110984517	110984517	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:110984517G>A	ENST00000524391.1	-	3	1993	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	KCNV1_ENST00000297404.1_Missense_Mutation_p.R321C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	321						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.R321C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTTAGCATGCGCAGAGCCCTG	0.507000													3	86					0	0	0.150653	0	0
LAMA3	3909	broad.mit.edu	37	18	21487531	21487531	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:21487531A>T	ENST00000313654.9	+	53	6977	c.6736A>T	c.(6736-6738)Aac>Tac	p.N2246Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.N2190Y|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N581Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.N637Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2246	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAGCTCTCAACAACCTACA	0.428000													39	118					0	0	0.870114	0	0
OR2M3	127062	broad.mit.edu	37	1	248367301	248367301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:248367301G>C	ENST00000456743.1	+	1	970	c.932G>C	c.(931-933)gGa>gCa	p.G311A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCAAGTCTGGAGAGTGAGTT	0.413000													36	104					0	0	0.870114	0	0
CDH23	64072	broad.mit.edu	37	10	73553235	73553235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:73553235C>A	ENST00000224721.6	+	47	6570	c.6565C>A	c.(6565-6567)Ctg>Atg	p.L2189M		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2184	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGTGAGCGTGCTGGAGTCGGC	0.557000													39	96					9.57592e-29	1.74426e-28	0.870114	1	0
DLGAP3	58512	broad.mit.edu	37	1	35370500	35370500	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:35370500G>T	ENST00000373347.1	-	3	753	c.485C>A	c.(484-486)cCc>cAc	p.P162H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P162H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	162					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCACTGCGGGGCTCTGGGGC	0.647000													12	29					9.7654e-05	0.000106337	0.557998	1	0
DRC1	92749	broad.mit.edu	37	2	26677520	26677520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:26677520C>A	ENST00000288710.2	+	15	1999	c.1925C>A	c.(1924-1926)tCg>tAg	p.S642*		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TTCAGGGACTCGCGGGCCCCG	0.592000													32	100					2.24893e-16	3.42285e-16	0.847076	1	0
OSR1	130497	broad.mit.edu	37	2	19553252	19553252	+	Silent	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:19553252T>G	ENST00000536433.1	-	1	3425	c.315A>C	c.(313-315)ggA>ggC	p.G105G	OSR1_ENST00000272223.2_Silent_p.G105G			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	105					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GAACGCTGCCTCCAGCGGTGA	0.632000													10	28					0	0	0.361761	0	0
TMEM255A	55026	broad.mit.edu	37	X	119438295	119438295	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:119438295A>G	ENST00000371369.4	-	2	336	c.110T>C	c.(109-111)cTt>cCt	p.L37P	TMEM255A_ENST00000309720.5_Missense_Mutation_p.L37P|TMEM255A_ENST00000440464.1_Missense_Mutation_p.L37P	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		GGACACAATAAGCAAAGTCAC	0.448000													48	42					0	0	0.870114	0	0
DGKB	1607	broad.mit.edu	37	7	14613846	14613846	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:14613846G>A	ENST00000403951.2	-	20	2183	c.1764C>T	c.(1762-1764)tcC>tcT	p.S588S	DGKB_ENST00000407950.1_Silent_p.S580S|DGKB_ENST00000406247.3_Silent_p.S588S|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.S588S|DGKB_ENST00000402815.1_Silent_p.S587S|DGKB_ENST00000444700.2_Silent_p.S569S|DGKB_ENST00000258767.5_Silent_p.S588S			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	588					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCACGCCAATGGAAAAGTAAT	0.338000													38	153					0	0	0.870114	0	0
SPAG6	9576	broad.mit.edu	37	10	22676803	22676803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:22676803G>T	ENST00000376603.2	+	6	1100	c.958G>T	c.(958-960)Gca>Tca	p.A320S	SPAG6_ENST00000538630.1_Missense_Mutation_p.A219S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.A244S|SPAG6_ENST00000376624.3_Missense_Mutation_p.A244S|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	244					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CGTGGATCTGGCAGAAATGGT	0.373000													19	76					4.87955e-14	7.07491e-14	0.693898	1	0
GNA11	2767	broad.mit.edu	37	19	3115012	3115012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:3115012C>T	ENST00000078429.4	+	4	789	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	183					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R183C(5)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTGCGGGTCCGCGTGCCCAC	0.672000			Mis		uveal melanoma								71	147					0	0	0.870114	0	0
EPHB4	2050	broad.mit.edu	37	7	100421852	100421852	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:100421852C>G	ENST00000358173.3	-	2	564	c.96G>C	c.(94-96)tgG>tgC	p.W32C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.W32C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	32					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGAATGTCACCCACTTCAGAT	0.597000													37	201					0	0	0.870114	0	0
SNX16	64089	broad.mit.edu	37	8	82752200	82752200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:82752200C>A	ENST00000396330.2	-	3	528	c.22G>T	c.(22-24)Gtt>Ttt	p.V8F	SNX16_ENST00000345957.4_Missense_Mutation_p.V8F|SNX16_ENST00000353788.4_Missense_Mutation_p.V8F	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	8					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GGCATAGGAACTGGGACATAA	0.383000													37	124					2.13384e-23	3.68446e-23	0.870114	1	0
CAGE1	285782	broad.mit.edu	37	6	7378887	7378887	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:7378887G>T	ENST00000502583.1	-	4	1214	c.650C>A	c.(649-651)gCc>gAc	p.A217D	CAGE1_ENST00000338150.4_Missense_Mutation_p.A217D|CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000379918.4_Missense_Mutation_p.A217D|CAGE1_ENST00000512086.1_Missense_Mutation_p.A217D|CAGE1_ENST00000296742.7_Missense_Mutation_p.A81D	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	217										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGGGTTGAGGGCAGATTCCTT	0.413000													57	219					2.10938e-32	3.96942e-32	0.870114	1	0
AHCYL2	23382	broad.mit.edu	37	7	129045719	129045719	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:129045719G>C	ENST00000325006.3	+	9	1239	c.1185G>C	c.(1183-1185)gtG>gtC	p.V395V	AHCYL2_ENST00000474594.1_Silent_p.V292V|AHCYL2_ENST00000531335.2_Silent_p.V314V|AHCYL2_ENST00000490911.1_Silent_p.V292V|AHCYL2_ENST00000446544.2_Silent_p.V394V|AHCYL2_ENST00000446212.1_Silent_p.V293V	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	395					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GAAAGCAAGTGGTAGTCTGTG	0.333000													28	118					0	0	0.819951	0	0
ZNF622	90441	broad.mit.edu	37	5	16458720	16458720	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:16458720G>A	ENST00000308683.2	-	4	1194	c.1068C>T	c.(1066-1068)caC>caT	p.H356H		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	356						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCCTTCCTTGTGATCTGGAT	0.383000													13	33					0	0	0.520397	0	0
C9orf172	389813	broad.mit.edu	37	9	139738943	139738943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:139738943C>A	ENST00000436881.1	+	1	77	c.77C>A	c.(76-78)gCg>gAg	p.A26E		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	26										endometrium(2)|large_intestine(1)|lung(6)	9						CCGGGACCCGCGTCCAAGTGC	0.662000													3	23					0.115264	0.116287	0.115264	1	0
CNGB3	54714	broad.mit.edu	37	8	87591393	87591393	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:87591393G>C	ENST00000320005.5	-	16	1916	c.1869C>G	c.(1867-1869)acC>acG	p.T623T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	623					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTCTTGGAGGGTCTTTTTGT	0.448000													39	199					0	0	0.853193	0	0
FAM135B	51059	broad.mit.edu	37	8	139263089	139263089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:139263089C>A	ENST00000395297.1	-	6	707	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	179										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATACCTGATCAATGGCTGCT	0.562000										HNSCC(54;0.14)			12	136					7.03913e-09	8.72764e-09	0.411799	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702789	27702789	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:27702789C>A	ENST00000438700.3	-	1	508	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	131					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACCTGCCACCCCAGCCACTGG	0.677000													6	34					3.09899e-07	3.64371e-07	0.307466	1	0
FMO2	2327	broad.mit.edu	37	1	171173137	171173137	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:171173137G>T	ENST00000441535.1	+	6	878	c.761G>T	c.(760-762)tGg>tTg	p.W254L	FMO2_ENST00000209929.7_Missense_Mutation_p.W254L|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	254					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTGTAAAATGGATGATAGAA	0.428000													24	71					6.38683e-12	8.78051e-12	0.729181	1	0
CD1E	913	broad.mit.edu	37	1	158326334	158326334	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:158326334T>A	ENST00000368161.3	+	5	847	c.847T>A	c.(847-849)Tac>Aac	p.Y283N	CD1E_ENST00000368166.3_Silent_p.V128V|CD1E_ENST00000368165.3_Silent_p.V227V|CD1E_ENST00000368157.1_Silent_p.V73V|CD1E_ENST00000368163.3_Silent_p.V262V|CD1E_ENST00000368156.1_Silent_p.V227V|CD1E_ENST00000368164.3_Missense_Mutation_p.Y94N|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368154.1_Silent_p.V73V|CD1E_ENST00000368167.3_Silent_p.V317V|CD1E_ENST00000444681.2_Silent_p.V218V|CD1E_ENST00000452291.2_Silent_p.V128V|CD1E_ENST00000368155.3_Silent_p.V172V|CD1E_ENST00000368160.3_Silent_p.V317V	NM_001042584.2	NP_001036049.1	P15812	CD1E_HUMAN	CD1e molecule	0	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTGTGATAGTTACCCTGGTCA	0.383000													14	35					0	0	0.539581	0	0
TENM3	55714	broad.mit.edu	37	4	183603027	183603027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:183603027G>A	ENST00000511685.1	+	11	2018	c.1895G>A	c.(1894-1896)tGc>tAc	p.C632Y	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.C632Y					teneurin transmembrane protein 3																		GAATGTCACTGCAGTCCAGGA	0.468000													5	34					0	0	0.278610	0	0
PAXIP1	22976	broad.mit.edu	37	7	154747277	154747277	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:154747277T>A	ENST00000404141.1	-	15	2768	c.2614A>T	c.(2614-2616)Act>Tct	p.T872S	PAXIP1_ENST00000397192.1_Missense_Mutation_p.T872S|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	872	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCGAATCCAGTGAAAAGCACA	0.363000													16	47					0	0	0.624587	0	0
NID1	4811	broad.mit.edu	37	1	236187372	236187372	+	Missense_Mutation	SNP	T	T	A	rs138933538	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:236187372T>A	ENST00000264187.6	-	9	2208	c.2126A>T	c.(2125-2127)tAt>tTt	p.Y709F	NID1_ENST00000366595.3_Missense_Mutation_p.Y709F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	709	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCTGTACCATAGCAGGTTCG	0.582000													15	69					0	0	0.654019	0	0
EYA1	2138	broad.mit.edu	37	8	72211904	72211904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:72211904G>T	ENST00000340726.3	-	8	1247	c.608C>A	c.(607-609)aCa>aAa	p.T203K	EYA1_ENST00000419131.1_Missense_Mutation_p.T198K|EYA1_ENST00000388740.3_Missense_Mutation_p.T170K|EYA1_ENST00000388741.2_Missense_Mutation_p.T169K|EYA1_ENST00000388742.4_Missense_Mutation_p.T203K|EYA1_ENST00000303824.7_Missense_Mutation_p.T197K|EYA1_ENST00000388743.2_Missense_Mutation_p.T202K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	203					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGAGGAATTTGTGAGTGAATT	0.289000													43	112					3.53049e-34	6.73925e-34	0.870114	1	0
TIAM1	7074	broad.mit.edu	37	21	32492776	32492776	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:32492776G>A	ENST00000286827.3	-	29	5157	c.4686C>T	c.(4684-4686)atC>atT	p.I1562I	TIAM1_ENST00000541036.1_Silent_p.I1502I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1562					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCCTCCATTGATCCCCGACA	0.582000													13	51					0	0	0.539581	0	0
HSPG2	3339	broad.mit.edu	37	1	22216503	22216503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:22216503T>A	ENST00000374695.3	-	6	624	c.545A>T	c.(544-546)cAg>cTg	p.Q182L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	182	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGAATCCCTGGGGAGAGGT	0.612000													35	73					0	0	0.827153	0	0
GATA6	2627	broad.mit.edu	37	18	19780756	19780756	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:19780756G>T	ENST00000269216.3	+	7	2035	c.1758G>T	c.(1756-1758)ccG>ccT	p.P586P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P586P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	586					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCGTGCGACCGGATTCCTGGT	0.662000													6	18					3.59834e-05	3.95618e-05	0.217242	1	0
RPF1	80135	broad.mit.edu	37	1	84955387	84955387	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:84955387C>T	ENST00000370654.5	+	4	453	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	146	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AGATTCTCATCACAACATCAG	0.333000													25	58					0	0	0.760397	0	0
TRPV5	56302	broad.mit.edu	37	7	142630438	142630438	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:142630438T>A	ENST00000265310.1	-	1	467	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	TRPV5_ENST00000442623.1_Missense_Mutation_p.Q40L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	40					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTCTTCTGCTGCAGCATATG	0.577000													36	104					0	0	0.859065	0	0
ZNF710	374655	broad.mit.edu	37	15	90611029	90611029	+	Silent	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:90611029A>T	ENST00000268154.4	+	2	911	c.660A>T	c.(658-660)ccA>ccT	p.P220P		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	220	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGTTCGAGCCACCCCACCTGG	0.701000													10	32					0	0	0.435327	0	0
TSPAN32	10077	broad.mit.edu	37	11	2325383	2325383	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:2325383C>T	ENST00000182290.4	+	3	365	c.228C>T	c.(226-228)gcC>gcT	p.A76A	TSPAN32_ENST00000451520.2_Silent_p.A65A|TSPAN32_ENST00000381121.3_Silent_p.A76A|TSPAN32_ENST00000483227.1_3'UTR	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	76					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CTCTGGGAGCCGTGCTGAGCG	0.632000													3	7					0	0	0.150653	0	0
GCM2	9247	broad.mit.edu	37	6	10874377	10874377	+	Silent	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:10874377T>G	ENST00000379491.4	-	5	1519	c.1372A>C	c.(1372-1374)Aga>Cga	p.R458R	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	458					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACAGTGGGTCTGATGGCCCGG	0.572000													21	30					0	0	0.639603	0	0
KMT2C	58508	broad.mit.edu	37	7	151859762	151859762	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:151859762T>G	ENST00000355193.2	-	43	11118	c.10900A>C	c.(10900-10902)Act>Cct	p.T3634P	KMT2C_ENST00000262189.6_Missense_Mutation_p.T3634P					lysine (K)-specific methyltransferase 2C																		ATGCCTGGAGTCGGTGGGGCA	0.493000													12	67					0	0	0.457914	0	0
PAPD7	11044	broad.mit.edu	37	5	6750512	6750512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:6750512G>T	ENST00000230859.6	+	10	1135	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	336					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCGAGAGCCCGAGTCTCCCTA	0.547000													18	40					4.26978e-12	5.90059e-12	0.654019	1	0
GBX2	2637	broad.mit.edu	37	2	237074561	237074561	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:237074561G>T	ENST00000306318.4	-	2	1440	c.1043C>A	c.(1042-1044)cCc>cAc	p.P348H	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	348						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACCCTCAGGGCCGGGCCTG	0.627000													22	50					1.03073e-24	1.80719e-24	0.667858	1	0
PRKCG	5582	broad.mit.edu	37	19	54410100	54410100	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:54410100A>C	ENST00000263431.3	+	18	2327	c.2045A>C	c.(2044-2046)cAc>cCc	p.H682P	PRKCG_ENST00000540413.1_Missense_Mutation_p.H682P|PRKCG_ENST00000542049.1_Missense_Mutation_p.H533P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	682	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GACTTCGTGCACCCGGATGCC	0.697000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	65					0	0	0.667858	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995559	57995559	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:57995559C>A	ENST00000316770.2	-	1	831	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GACGCAGGTACACGAGGCTGC	0.612000													13	50					2.61681e-11	3.50081e-11	0.457914	1	0
FAM171A1	221061	broad.mit.edu	37	10	15256232	15256232	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:15256232G>A	ENST00000378116.4	-	8	1361	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	452						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTTCCCCAGCGTCCCACTTGG	0.488000													9	20					0	0	0.361761	0	0
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:31238023G>A	ENST00000251758.5	+	5	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	201	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTCCTCGCCGAATACGAGAG	0.617000										Multiple Myeloma(12;0.14)			3	15					0	0	0.184627	0	0
MMP16	4325	broad.mit.edu	37	8	89198710	89198710	+	Silent	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:89198710A>T	ENST00000286614.6	-	3	680	c.399T>A	c.(397-399)acT>acA	p.T133T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	133					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TATACCTGTAAGTGATGTGCT	0.408000													158	259					0	0	0.870114	0	0
DNAJC6	9829	broad.mit.edu	37	1	65874408	65874408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:65874408C>G	ENST00000395325.3	+	17	2562	c.2405C>G	c.(2404-2406)aCa>aGa	p.T802R	DNAJC6_ENST00000371069.4_Missense_Mutation_p.T859R|DNAJC6_ENST00000263441.7_Missense_Mutation_p.T789R	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	802					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGGCCTCGGACAATAGCTGAG	0.423000													7	26					0	0	0.278610	0	0
KAT2A	2648	broad.mit.edu	37	17	40273005	40273005	+	Silent	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:40273005T>A	ENST00000225916.5	-	1	371	c.318A>T	c.(316-318)ctA>ctT	p.L106L	CTD-2132N18.3_ENST00000592574.1_Intron	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	106					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGAAGACCCCTAGCTTCTCAA	0.697000													4	15					0	0	0.217242	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649388	62649388	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:62649388C>T	ENST00000377892.1	+	6	1068	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	SLC3A2_ENST00000377889.2_Silent_p.L189L|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Silent_p.L252L|SLC3A2_ENST00000338663.7_Silent_p.L150L|SLC3A2_ENST00000377890.2_Silent_p.L251L|SLC3A2_ENST00000535296.1_Silent_p.L220L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	251					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TCTCGATTACCTGAGCTCTCT	0.572000													18	45					0	0	0.681144	0	0
SLC23A2	9962	broad.mit.edu	37	20	4837786	4837786	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:4837786G>A	ENST00000379333.1	-	17	2177	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	SLC23A2_ENST00000338244.1_Silent_p.L595L|SLC23A2_ENST00000424750.2_Silent_p.L481L	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	595					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCATGCCGTCGAGTGATTTGT	0.453000													25	60					0	0	0.769981	0	0
CST9	128822	broad.mit.edu	37	20	23586268	23586268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:23586268C>G	ENST00000376971.3	-	1	245	c.234G>C	c.(232-234)agG>agC	p.R78S		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	78						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TGCTATCCTCCCTCCATGAAC	0.532000													52	208					0	0	0.870114	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161316	185161316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:185161316G>T	ENST00000265026.3	+	4	1077	c.743G>T	c.(742-744)gGc>gTc	p.G248V	MAP3K13_ENST00000446828.1_Missense_Mutation_p.G41V|MAP3K13_ENST00000443863.1_Missense_Mutation_p.G104V|MAP3K13_ENST00000535426.1_Missense_Mutation_p.G104V|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G248V	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	248	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTACGAGCTGGCAGGAAGATC	0.423000													49	83					3.89483e-19	6.30139e-19	0.870114	1	0
CUL9	23113	broad.mit.edu	37	6	43154105	43154105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:43154105G>A	ENST00000252050.4	+	4	1247	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CUL9_ENST00000354495.3_Missense_Mutation_p.R388Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R388Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	388					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCAGGGATGCGAGTGCGGATG	0.592000													23	120					0	0	0.667858	0	0
ADAM23	8745	broad.mit.edu	37	2	207459573	207459573	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:207459573C>A	ENST00000264377.3	+	23	2519	c.2191C>A	c.(2191-2193)Cta>Ata	p.L731I	ADAM23_ENST00000374415.3_Missense_Mutation_p.L731I|ADAM23_ENST00000374416.1_Missense_Mutation_p.L731I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	731					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AATTCAAGCCCTAAATATGAG	0.473000													20	71					3.28513e-13	4.66125e-13	0.667858	1	0
LAMA1	284217	broad.mit.edu	37	18	6985641	6985641	+	Splice_Site	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:6985641T>A	ENST00000389658.3	-	38	5474	c.5379_splice	c.e38-1	p.D1794_splice		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1794	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTTTTTATCCTGCAGCAG	0.453000													6	46					0	0	0.307466	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649727	121649727	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:121649727A>T	ENST00000489711.1	+	18	1982	c.1594A>T	c.(1594-1596)Agt>Tgt	p.S532C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S501C|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	532					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CATCTCCCTGAGTACAGATAC	0.393000													37	51					0	0	0.870114	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28358440	28358440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:28358440G>T	ENST00000361028.1	-	4	1772	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.H543N					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						ATTCTCTGATGCTGAATGAGG	0.488000													4	27					0.000602214	0.000634917	0.184627	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67322284	67322284	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:67322284G>T	ENST00000360461.5	+	19	5970	c.3435G>T	c.(3433-3435)ctG>ctT	p.L1145L	PLEKHG4_ENST00000427155.2_Silent_p.L1145L|PLEKHG4_ENST00000450733.1_Silent_p.L1064L|PLEKHG4_ENST00000379344.3_Silent_p.L1145L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1145					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGGCAGAGCTGGGCGGCCAGC	0.627000													23	40					2.41591e-17	3.77746e-17	0.681144	1	0
ARID2	196528	broad.mit.edu	37	12	46244898	46244898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:46244898G>T	ENST00000334344.6	+	15	3164	c.2992G>T	c.(2992-2994)Gga>Tga	p.G998*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.G849*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.G608*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	998	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAATCACAGGGACCACCTCC	0.488000			"""N, S, F"""		hepatocellular carcinoma								31	52					2.20474e-14	3.22605e-14	0.788014	1	0
DENND1C	79958	broad.mit.edu	37	19	6472948	6472948	+	Silent	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:6472948A>T	ENST00000381480.2	-	15	1222	c.1110T>A	c.(1108-1110)ccT>ccA	p.P370P	DENND1C_ENST00000543576.1_Silent_p.P326P	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	370	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGGCCTGCAGAGGTGCCCCAG	0.627000													5	7					0	0	0.217242	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965058	42965058	+	Silent	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:42965058T>C	ENST00000399770.2	+	2	534	c.534T>C	c.(532-534)aaT>aaC	p.N178N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	178	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TAGCCCTGAATGGTGAATATG	0.438000													95	271					0	0	0.870114	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091747	220091747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:220091747C>A	ENST00000366926.3	-	3	969	c.808G>T	c.(808-810)Gag>Tag	p.E270*	SLC30A10_ENST00000536446.1_Nonsense_Mutation_p.E25*|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	270					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CACGGGTCCTCACTCTTCAGG	0.527000													50	135					2.14674e-31	4.01128e-31	0.870114	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89246961	89246961	+	RNA	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:89246961A>T	ENST00000496168.1	-	0	389																											CGCCTTATAGATCAGGAGCTT	0.527000													30	87					0	0	0.812448	0	0
FOLR2	2350	broad.mit.edu	37	11	71929607	71929607	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:71929607C>T	ENST00000449475.2	+	2	328	c.30C>T	c.(28-30)ctC>ctT	p.L10L	FOLR2_ENST00000454954.2_Intron|FOLR2_ENST00000298223.6_5'UTR			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	0					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TACCCTAGCTCCGCCTGCAGG	0.577000													8	20					0	0	0.387290	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561545	84561545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:84561545G>T	ENST00000286744.5	+	13	1596	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E458*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	458	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTGCAGGTGGAAGAATGGAA	0.483000													14	48					8.60227e-14	1.23599e-13	0.500413	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008743	142008743	+	RNA	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:142008743G>C	ENST00000390387.3	+	0	263																											ATAATAAGGAGCTCATTATAA	0.358000													26	52					0	0	0.740014	0	0
RELN	5649	broad.mit.edu	37	7	103180873	103180873	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:103180873C>T	ENST00000424685.2	-	44	6860	c.6701G>A	c.(6700-6702)tGt>tAt	p.C2234Y	RELN_ENST00000343529.5_Missense_Mutation_p.C2234Y|RELN_ENST00000428762.1_Missense_Mutation_p.C2234Y			P78509	RELN_HUMAN	reelin	2234					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)		GCCTTTACCACATCCCAGTCT	0.463000													31	103					0	0	0.853193	0	0
FAM124A	220108	broad.mit.edu	37	13	51855003	51855003	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:51855003C>A	ENST00000322475.8	+	4	1387	c.1252C>A	c.(1252-1254)Ctg>Atg	p.L418M	FAM124A_ENST00000280057.6_Missense_Mutation_p.L454M	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	418										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGACACAGGCCTGCGGCTGTC	0.617000													24	60					9.78485e-24	1.6932e-23	0.769981	1	0
FAM78B	149297	broad.mit.edu	37	1	166039942	166039942	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:166039942C>A	ENST00000338353.3	-	3	911	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	FAM78B_ENST00000354422.3_Missense_Mutation_p.D108Y			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTCACCCCATCTGAGTCACTG	0.517000													16	49					1.56452e-12	2.18484e-12	0.557998	1	0
BIRC7	79444	broad.mit.edu	37	20	61870560	61870560	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:61870560C>G	ENST00000217169.3	+	5	838	c.624C>G	c.(622-624)gtC>gtG	p.V208V	BIRC7_ENST00000342412.6_Silent_p.V208V|BIRC7_ENST00000395306.1_Silent_p.V121V	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	208					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GGAGAGAGGTCCAGTCTGAAA	0.647000													12	65					0	0	0.411799	0	0
TRPC3	7222	broad.mit.edu	37	4	122833136	122833136	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:122833136G>T	ENST00000264811.5	-	4	1653	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	TRPC3_ENST00000379645.3_Missense_Mutation_p.T485N|TRPC3_ENST00000513531.1_Missense_Mutation_p.T357N	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	400					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGCAGCGTGGTGATGCCTTC	0.458000													18	106					5.26018e-13	7.42394e-13	0.608945	1	0
UNC5B	219699	broad.mit.edu	37	10	73048323	73048323	+	Splice_Site	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:73048323A>T	ENST00000335350.6	+	7	1317		c.e7-1		UNC5B_ENST00000373192.4_Splice_Site	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)						apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATGCTCTTACAGTCGATGGGG	0.577000													96	237					0	0	0.870114	0	0
GLYAT	10249	broad.mit.edu	37	11	58477473	58477473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:58477473C>A	ENST00000344743.3	-	6	798	c.657G>T	c.(655-657)tgG>tgT	p.W219C	GLYAT_ENST00000529732.1_Missense_Mutation_p.W219C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	219					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCATTAGATCCCAGCACACAG	0.552000													26	62					1.08052e-11	1.46274e-11	0.796494	1	0
PTCD3	55037	broad.mit.edu	37	2	86359531	86359531	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:86359531C>T	ENST00000254630.7	+	17	1423	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	453						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						ACCTGATCAACATCGTAATTT	0.408000													33	100					0	0	0.804634	0	0
LRRC7	57554	broad.mit.edu	37	1	70503868	70503868	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:70503868C>A	ENST00000310961.5	+	22	2680	c.2262C>A	c.(2260-2262)ggC>ggA	p.G754G	LRRC7_ENST00000415775.2_Silent_p.G33G|LRRC7_ENST00000035383.5_Silent_p.G749G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	749						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCCCCAGGCAATATACCAC	0.507000													64	194					1.356e-25	2.39862e-25	0.870114	1	0
SRPK3	26576	broad.mit.edu	37	X	153048562	153048562	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:153048562C>G	ENST00000489426.1	+	13	3304	c.938C>G	c.(937-939)tCc>tGc	p.S313C	SRPK3_ENST00000370104.1_Missense_Mutation_p.S246C|SRPK3_ENST00000370100.1_Missense_Mutation_p.S204C|SRPK3_ENST00000393786.3_Missense_Mutation_p.S246C|SRPK3_ENST00000370101.3_Missense_Mutation_p.S246C|SRPK3_ENST00000370108.3_Missense_Mutation_p.S246C			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	246	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCCCCTCCCGCTCCATA	0.682000													5	9					0	0	0.307466	0	0
HRH2	3274	broad.mit.edu	37	5	175111274	175111274	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:175111274T>A	ENST00000231683.2	+	1	2811	c.1038T>A	c.(1036-1038)agT>agA	p.S346R	HRH2_ENST00000377291.2_Missense_Mutation_p.S346R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	346					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGGTGTGGAGTGGGACAGAAG	0.582000													48	90					0	0	0.870114	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611418	42611418	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:42611418C>G	ENST00000276410.2	-	5	1279	c.924G>C	c.(922-924)ctG>ctC	p.L308L	CHRNA6_ENST00000534622.1_Silent_p.L293L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	308						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATGGTGAACAGCAGGTACT	0.507000													25	70					0	0	0.750413	0	0
KMT2C	58508	broad.mit.edu	37	7	151859764	151859764	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:151859764G>T	ENST00000355193.2	-	43	11116	c.10898C>A	c.(10897-10899)cCg>cAg	p.P3633Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.P3633Q					lysine (K)-specific methyltransferase 2C																		GCCTGGAGTCGGTGGGGCAGT	0.493000													12	63					3.27435e-08	3.97315e-08	0.457914	1	0
C1orf173	127254	broad.mit.edu	37	1	75097537	75097537	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:75097537T>A	ENST00000326665.5	-	7	897	c.679A>T	c.(679-681)Att>Ttt	p.I227F	C1orf173_ENST00000420661.2_Missense_Mutation_p.I30F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	227										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAACTGTTAATGTTTGGAAGT	0.403000													25	98					0	0	0.729181	0	0
ZFP28	140612	broad.mit.edu	37	19	57061523	57061523	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:57061523G>C	ENST00000301318.3	+	6	846	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	ZFP28_ENST00000591844.1_Missense_Mutation_p.E259Q|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	259	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGGGATATGGGAGAACAACAG	0.453000													12	15					0	0	0.520397	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544250	154544250	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:154544250C>G	ENST00000368476.3	+	5	1215	c.951C>G	c.(949-951)tgC>tgG	p.C317W		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	317					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCAGCGTGTGCGTGCTCAACG	0.632000													18	56					0	0	0.608945	0	0
SEC11A	23478	broad.mit.edu	37	15	85223960	85223960	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:85223960C>A	ENST00000268220.7	-	4	1055	c.415G>T	c.(415-417)Gtg>Ttg	p.V139L	SEC11A_ENST00000558134.1_Missense_Mutation_p.V139L|SEC11A_ENST00000560266.1_Missense_Mutation_p.V139L|SEC11A_ENST00000455959.3_Missense_Mutation_p.V113L	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	139					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			GCTCTCCCCACAACATCTTTT	0.403000													21	77					4.26978e-12	5.90059e-12	0.654019	1	0
KRT26	353288	broad.mit.edu	37	17	38926023	38926023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:38926023G>C	ENST00000335552.4	-	5	1000	c.952C>G	c.(952-954)Cag>Gag	p.Q318E		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	318	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATGAGGGACTGAAGTTCTATT	0.408000													35	110					0	0	0.870114	0	0
MEI1	150365	broad.mit.edu	37	22	42120006	42120006	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:42120006G>A	ENST00000401548.3	+	7	833	c.793G>A	c.(793-795)Gga>Aga	p.G265R	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.G5R	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	265							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAACCAGGATGGACTGGGAGA	0.453000													8	11					0	0	0.335167	0	0
GALNT8	26290	broad.mit.edu	37	12	4848388	4848388	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:4848388T>C	ENST00000252318.2	+	3	906	c.569T>C	c.(568-570)gTg>gCg	p.V190A	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	190	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTCATATTCGTGAATGAAGCT	0.398000													36	75					0	0	0.864702	0	0
RLTPR	146206	broad.mit.edu	37	16	67683455	67683455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:67683455G>T	ENST00000334583.6	+	20	2180	c.1852G>T	c.(1852-1854)Ggc>Tgc	p.G618C	RLTPR_ENST00000545661.1_Missense_Mutation_p.G582C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	618	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGATATCAGCGGCAACGCCAT	0.682000													7	22					1.06961e-07	1.27648e-07	0.278610	1	0
OR2B11	127623	broad.mit.edu	37	1	247614524	247614524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:247614524A>T	ENST00000318749.6	-	1	784	c.761T>A	c.(760-762)cTc>cAc	p.L254H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAGGTAGAAGAGGGAGACGAT	0.522000													29	114					0	0	0.788014	0	0
ITGAX	3687	broad.mit.edu	37	16	31383710	31383710	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:31383710G>T	ENST00000268296.4	+	18	2293	c.2172G>T	c.(2170-2172)gaG>gaT	p.E724D	ITGAX_ENST00000562522.1_Missense_Mutation_p.E724D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	724					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCTGCGTGGAGGACTCTGTGA	0.647000													39	122					4.32865e-36	8.34287e-36	0.870114	1	0
PALM2	114299	broad.mit.edu	37	9	112705583	112705583	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:112705583G>A	ENST00000448454.2	+	8	1120	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	PALM2_ENST00000483909.1_Missense_Mutation_p.G338R|PALM2_ENST00000314527.4_Missense_Mutation_p.G372R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.G340R|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GCTTGTGTCCGGGAGGCCGGT	0.547000													32	74					0	0	0.812448	0	0
TTC21B	79809	broad.mit.edu	37	2	166737189	166737189	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:166737189C>A	ENST00000243344.7	-	27	3942	c.3805_splice	c.e27+1	p.G1269_splice	TTC21B_ENST00000536175.1_Splice_Site_p.G207_splice	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1269						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCAAACTCACCTACTGCCGGA	0.308000													19	80					2.39556e-15	3.55759e-15	0.639603	1	0
CDHR5	53841	broad.mit.edu	37	11	618107	618107	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:618107G>A	ENST00000358353.3	-	15	2287	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	CDHR5_ENST00000349570.7_Silent_p.G461G|CDHR5_ENST00000397542.2_Silent_p.G655G			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	655					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCGAGGGGCCGCCACCTGGCA	0.657000													10	32					0	0	0.457914	0	0
PIK3CD	5293	broad.mit.edu	37	1	9777033	9777033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:9777033T>A	ENST00000377346.4	+	7	992	c.797T>A	c.(796-798)cTg>cAg	p.L266Q	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000361110.2_Intron	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	266					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCTGCCTGCACAGTGGG	0.652000													65	109					0	0	0.870114	0	0
PDE1C	5137	broad.mit.edu	37	7	31855674	31855674	+	Silent	SNP	G	G	T	rs144853377	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:31855674G>T	ENST00000396184.3	-	16	1881	c.1677C>A	c.(1675-1677)ggC>ggA	p.G559G	PDE1C_ENST00000396191.1_Silent_p.G559G|PDE1C_ENST00000321453.7_Silent_p.G559G|PDE1C_ENST00000396193.1_Silent_p.G619G|PDE1C_ENST00000396182.2_Silent_p.G559G|PDE1C_ENST00000479980.1_5'UTR	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	559					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCCAGATGCGCCTTCTTCAG	0.502000													33	82					4.14481e-20	6.81667e-20	0.819951	1	0
TPTE	7179	broad.mit.edu	37	21	10952928	10952928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:10952928G>A	ENST00000298232.7	-	8	582	c.215C>T	c.(214-216)tCa>tTa	p.S72L	TPTE_ENST00000342420.5_Missense_Mutation_p.S52L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S90L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	90					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAAAGGATGATACAATTGA	0.343000													10	36					0	0	0.411799	0	0
NXPH2	11249	broad.mit.edu	37	2	139428603	139428603	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:139428603G>C	ENST00000272641.3	-	2	790	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	228	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AAATGACCTTGAAGGGCTTGG	0.463000													12	31					0	0	0.435327	0	0
CNTN6	27255	broad.mit.edu	37	3	1371553	1371553	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:1371553C>A	ENST00000446702.2	+	11	1925	c.1298C>A	c.(1297-1299)cCa>cAa	p.P433Q	CNTN6_ENST00000350110.2_Missense_Mutation_p.P433Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.P361Q			Q9UQ52	CNTN6_HUMAN	contactin 6	433	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGATGCAAACCAAATGCTTTT	0.353000													27	24					4.3181e-19	6.97202e-19	0.769981	1	0
ERBB3	2065	broad.mit.edu	37	12	56495645	56495645	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:56495645A>T	ENST00000267101.3	+	28	4275	c.3835A>T	c.(3835-3837)Atg>Ttg	p.M1279L	ERBB3_ENST00000553131.1_Missense_Mutation_p.M520L|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.M1220L|ERBB3_ENST00000450146.2_Missense_Mutation_p.M636L|ERBB3_ENST00000549832.1_Missense_Mutation_p.M399L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1279					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTATGCAGCCATGGGGGCCTG	0.537000													30	50					0	0	0.769981	0	0
C10orf11	83938	broad.mit.edu	37	10	78316966	78316966	+	Splice_Site	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:78316966G>C	ENST00000496424.2	+	3	964		c.e3-1		C10orf11_ENST00000372499.1_Splice_Site|C10orf11_ENST00000593699.1_Splice_Site			Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11											endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TTTATTTGCAGGTGTCCTGGG	0.443000													7	48					0	0	0.361761	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140797788	140797788	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140797788T>C	ENST00000398594.2	+	1	362	c.362T>C	c.(361-363)gTg>gCg	p.V121A	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTCATTGTGGTGATTGAG	0.408000													18	42					0	0	0.608945	0	0
ZNF266	10781	broad.mit.edu	37	19	9524150	9524150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:9524150C>A	ENST00000592904.1	-	5	3527	c.1451G>T	c.(1450-1452)cGg>cTg	p.R484L	ZNF266_ENST00000592292.1_Missense_Mutation_p.R484L|ZNF266_ENST00000590306.1_Missense_Mutation_p.R484L|ZNF266_ENST00000588933.1_Missense_Mutation_p.R484L|ZNF266_ENST00000361451.2_Missense_Mutation_p.R484L|ZNF266_ENST00000588221.1_Missense_Mutation_p.R484L|ZNF266_ENST00000361151.1_Missense_Mutation_p.R484L			Q14584	ZN266_HUMAN	zinc finger protein 266	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGTGTGGATCCGCATGTGAAG	0.433000													5	22					3.59834e-05	3.95618e-05	0.217242	1	0
NTRK3	4916	broad.mit.edu	37	15	88679828	88679828	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:88679828A>G	ENST00000394480.1	-	8	956	c.635T>C	c.(634-636)aTc>aCc	p.I212T	NTRK3_ENST00000317501.3_Missense_Mutation_p.I212T|NTRK3_ENST00000357724.2_Missense_Mutation_p.I212T|NTRK3_ENST00000355254.2_Missense_Mutation_p.I212T|NTRK3_ENST00000360948.2_Missense_Mutation_p.I212T|NTRK3_ENST00000558676.1_Missense_Mutation_p.I212T|NTRK3_ENST00000557856.1_Missense_Mutation_p.I212T|NTRK3_ENST00000542733.2_Missense_Mutation_p.I114T|NTRK3_ENST00000540489.2_Missense_Mutation_p.I212T	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	212	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCACGCTGATCTCAGGAAG	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			14	29					0	0	0.500413	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304724	102304724	+	RNA	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:102304724G>A	ENST00000561463.1	+	0	12770																											ACTCGCGTGGGAACGAGAAGA	0.617000													4	21					0	0	0.335167	0	0
ZNF423	23090	broad.mit.edu	37	16	49671541	49671541	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:49671541C>A	ENST00000561648.1	-	4	1575	c.1522G>T	c.(1522-1524)Gcc>Tcc	p.A508S	ZNF423_ENST00000563137.2_Missense_Mutation_p.A448S|ZNF423_ENST00000562871.1_Missense_Mutation_p.A448S|ZNF423_ENST00000567169.1_Missense_Mutation_p.A391S|ZNF423_ENST00000262383.2_Missense_Mutation_p.A508S|ZNF423_ENST00000562520.1_Missense_Mutation_p.A448S|ZNF423_ENST00000535559.1_Missense_Mutation_p.A391S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	508					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGGGGTTGGCGTTGGGGCCG	0.577000													9	38					0.0581538	0.0589687	0.335167	1	0
SNHG14	104472715	broad.mit.edu	37	15	25468338	25468338	+	RNA	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:25468338G>T	ENST00000453082.2	+	0	885					NR_003343.1																						CTGAGCTGTGGTGAGCACATC	0.567000													27	56					7.92952e-12	1.08266e-11	0.667858	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655011	31655011	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:31655011G>T	ENST00000340345.4	-	1	265	c.240C>A	c.(238-240)acC>acA	p.T80T		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	80						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGGTACTGCAGGTCTTGGGCT	0.537000													21	79					7.88262e-20	1.29373e-19	0.654019	1	0
RNF217	154214	broad.mit.edu	37	6	125397805	125397805	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:125397805C>A	ENST00000521654.2	+	4	1284	c.1284C>A	c.(1282-1284)atC>atA	p.I428I	RNF217_ENST00000275184.6_Silent_p.I72I|RNF217_ENST00000359704.2_Silent_p.I136I|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.I193I			Q8TC41	RN217_HUMAN	ring finger protein 217	136					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TGATACAGATCCACATCCAGC	0.408000													16	44					6.94344e-10	8.82904e-10	0.539581	1	0
UBR5	51366	broad.mit.edu	37	8	103298663	103298663	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:103298663T>G	ENST00000520539.1	-	38	5746	c.5140A>C	c.(5140-5142)Atg>Ctg	p.M1714L	UBR5_ENST00000220959.4_Missense_Mutation_p.M1714L|UBR5_ENST00000521922.1_Missense_Mutation_p.M1708L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1714					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCCCACTGCATTGAACGGGGA	0.512000													32	97					0	0	0.812448	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012903	73012903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:73012903C>A	ENST00000308744.6	+	4	1041	c.943C>A	c.(943-945)Cag>Aag	p.Q315K	NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q216K|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q213K|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	315					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGGCCAAATCAGGAAATGAG	0.448000													16	46					4.14922e-12	5.75397e-12	0.500413	1	0
SEC23B	10483	broad.mit.edu	37	20	18529366	18529366	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:18529366C>T	ENST00000336714.3	+	16	2289	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	SEC23B_ENST00000377475.3_Silent_p.I619I|SEC23B_ENST00000377465.1_Silent_p.I619I|SEC23B_ENST00000262544.2_Silent_p.I619I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	619					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGTCCCTCATCATGATCCAGC	0.458000													22	62					0	0	0.624587	0	0
SNTG1	54212	broad.mit.edu	37	8	51569532	51569532	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:51569532C>A	ENST00000522124.1	+	14	1574	c.913C>A	c.(913-915)Ccg>Acg	p.P305T	SNTG1_ENST00000276467.5_Missense_Mutation_p.P305T|SNTG1_ENST00000518864.1_Missense_Mutation_p.P305T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P305T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	305	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGTGTACTCCCCGACCTTCCT	0.478000													105	151					1.08021e-59	2.17132e-59	0.870114	1	0
OR10R2	343406	broad.mit.edu	37	1	158449917	158449917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:158449917G>T	ENST00000368152.1	+	1	250	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCTTCCTTGGCATTCTCTC	0.418000													46	178					2.82306e-37	5.45427e-37	0.870114	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725937	140725937	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140725937C>T	ENST00000253812.6	+	1	2337	c.2337C>T	c.(2335-2337)ctC>ctT	p.L779L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACACGCTCATCAGCCAGG	0.507000													43	96					0	0	0.870114	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48609818	48609818	+	Splice_Site	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:48609818C>T	ENST00000599111.1	-	2	331	c.29_splice	c.e2-1	p.R10_splice	PLA2G4C_ENST00000599921.1_5'UTR|PLA2G4C_ENST00000354276.3_5'UTR	NM_001159322.1|NM_003706.2	NP_001152794.1|NP_003697.2	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	0	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCTCAGTCCTCCTGCCAAAGA	0.517000													13	28					0	0	0.500413	0	0
ATG2A	23130	broad.mit.edu	37	11	64677292	64677292	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:64677292C>A	ENST00000421419.2	-	14	2082	c.1968G>T	c.(1966-1968)ccG>ccT	p.P656P	ATG2A_ENST00000377264.3_Silent_p.P656P			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	656			P -> R (in dbSNP:rs656195).				protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCCAGGGGTCCGGCTCAGGCC	0.711000													15	39					1.5739e-10	2.06396e-10	0.500413	1	0
GPHB5	122876	broad.mit.edu	37	14	63784565	63784565	+	RNA	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:63784565C>A	ENST00000539258.1	-	0	56							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CAGCTTCATGCTGCTCTTCCG	0.557000													13	15					0.000219431	0.000236037	0.457914	1	0
FAM117B	150864	broad.mit.edu	37	2	203620321	203620321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:203620321C>T	ENST00000303116.6	+	5	1031	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	FAM117B_ENST00000392238.2_Missense_Mutation_p.R341W	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	341	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						AACAGGCTCCCGGTTCCGGAA	0.413000													20	146					0	0	0.681144	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698688	17698688	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:17698688G>T	ENST00000399080.2	-	1	1018	c.995C>A	c.(994-996)cCa>cAa	p.P332Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	332										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTGAGTGATGGGTAGTCATT	0.338000													6	32					0.248553	0.249493	0.248553	1	0
LEFTY1	10637	broad.mit.edu	37	1	226076607	226076607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:226076607G>T	ENST00000272134.5	-	1	239	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	54					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					ACGTGGGTGGGGATGACCAGC	0.697000													3	23					1.23904e-05	1.37941e-05	0.184627	1	0
FZD6	8323	broad.mit.edu	37	8	104337039	104337039	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:104337039A>G	ENST00000358755.4	+	4	1022	c.705A>G	c.(703-705)atA>atG	p.I235M	FZD6_ENST00000522566.1_Missense_Mutation_p.I235M|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.I203M	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	235					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GACCAATTATATATTACTCTG	0.358000													21	33					0	0	0.639603	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188674	140188674	+	Silent	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140188674G>C	ENST00000530339.1	+	1	1902	c.1902G>C	c.(1900-1902)acG>acC	p.T634T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T634T|PCDHA4_ENST00000356878.4_Silent_p.T634T	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCACAACGCGTGCCCTGG	0.687000													58	115					0	0	0.870114	0	0
FAM133A	286499	broad.mit.edu	37	X	92964540	92964540	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:92964540G>T	ENST00000538690.1	+	5	683	c.122G>T	c.(121-123)tGg>tTg	p.W41L	FAM133A_ENST00000332647.4_Missense_Mutation_p.W41L|FAM133A_ENST00000322139.4_Missense_Mutation_p.W41L|FAM133A_ENST00000355813.5_Missense_Mutation_p.W41L	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	41										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AGACCCACCTGGGAAGAAGTA	0.368000													7	4					2.0095e-06	2.30817e-06	0.248553	1	0
GALNT14	79623	broad.mit.edu	37	2	31147092	31147092	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:31147092G>T	ENST00000349752.5	-	13	1912	c.1273C>A	c.(1273-1275)Cga>Aga	p.R425R	GALNT14_ENST00000406653.1_Silent_p.R405R|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Silent_p.R392R|GALNT14_ENST00000324589.5_Silent_p.R430R|GALNT14_ENST00000420311.2_Silent_p.R390R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	425	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R425R(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCTCTGTCGGATATTGCCC	0.517000													32	83					1.36161e-19	2.22099e-19	0.796494	1	0
EOMES	8320	broad.mit.edu	37	3	27759037	27759037	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:27759037T>A	ENST00000295743.4	-	6	1788	c.1585A>T	c.(1585-1587)Aac>Tac	p.N529Y	EOMES_ENST00000537516.1_Missense_Mutation_p.N253Y|EOMES_ENST00000449599.1_Missense_Mutation_p.N548Y			O95936	EOMES_HUMAN	eomesodermin	529					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCTAGTTTGTTGGTCCCAGGT	0.542000													102	133					0	0	0.870114	0	0
FAM115A	9747	broad.mit.edu	37	7	143573464	143573464	+	Missense_Mutation	SNP	C	C	A	rs150435300	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:143573464C>A	ENST00000479870.1	-	2	446	c.238G>T	c.(238-240)Gca>Tca	p.A80S	FAM115A_ENST00000355951.2_Missense_Mutation_p.A80S|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	80								p.A80T(1)		NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CACCCCACTGCGTTCAGGAGA	0.607000													9	23					2.80697e-09	3.52421e-09	0.387290	1	0
TNN	63923	broad.mit.edu	37	1	175086138	175086138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:175086138G>A	ENST00000239462.4	+	10	2296	c.2183G>A	c.(2182-2184)tGg>tAg	p.W728*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	728	Fibronectin type-III 6.				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)		ACTGTCTCCTGGGACCCGGTG	0.547000													44	109					0	0	0.870114	0	0
TACC2	10579	broad.mit.edu	37	10	123846146	123846146	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:123846146G>T	ENST00000369005.1	+	4	4471	c.4131G>T	c.(4129-4131)atG>atT	p.M1377I	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M1377I|TACC2_ENST00000515603.1_Missense_Mutation_p.M1377I|TACC2_ENST00000453444.2_Missense_Mutation_p.M1377I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.M1377I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1377						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGAGAGGATGGGAGAGCCTT	0.602000													26	54					7.92952e-12	1.08266e-11	0.667858	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134116	91134116	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:91134116G>A	ENST00000373094.1	+	2	3722	c.2877G>A	c.(2875-2877)aaG>aaA	p.K959K	PCDH11X_ENST00000361655.2_Silent_p.K959K|PCDH11X_ENST00000395337.2_Silent_p.K959K|PCDH11X_ENST00000406881.1_Silent_p.K959K|PCDH11X_ENST00000361724.1_Silent_p.K959K|PCDH11X_ENST00000504220.1_Silent_p.K959K|PCDH11X_ENST00000373088.1_Silent_p.K959K|PCDH11X_ENST00000373097.1_Silent_p.K959K|PCDH11X_ENST00000298274.8_Silent_p.K959K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	959					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGAATTCGAAGCACCACATCA	0.507000													95	92					0	0	0.870114	0	0
CPXM1	56265	broad.mit.edu	37	20	2776528	2776528	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:2776528C>T	ENST00000380605.2	-	11	1501	c.1437G>A	c.(1435-1437)acG>acA	p.T479T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	479					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTACTGCCCGCGTTTCAGGAG	0.602000													24	71					0	0	0.693898	0	0
HGFAC	3083	broad.mit.edu	37	4	3444526	3444526	+	Missense_Mutation	SNP	C	C	A	rs138512609		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:3444526C>A	ENST00000382774.3	+	2	300	c.185C>A	c.(184-186)tCt>tAt	p.S62Y	HGFAC_ENST00000511533.1_Missense_Mutation_p.S62Y	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	62					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGGTGACCTCTGTGACCTCT	0.632000													45	162					1.86633e-21	3.12101e-21	0.870114	1	0
KIF20B	9585	broad.mit.edu	37	10	91514362	91514362	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:91514362A>G	ENST00000416354.1	+	26	4597	c.4525A>G	c.(4525-4527)Ata>Gta	p.I1509V	KIF20B_ENST00000371728.3_Missense_Mutation_p.I1479V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1439V|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.I1479V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1479					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGCAGAGAATATACGAAATAA	0.308000													11	27					0	0	0.435327	0	0
SMG6	23293	broad.mit.edu	37	17	2076091	2076091	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:2076091T>G	ENST00000544865.1	-	13	3635	c.3125A>C	c.(3124-3126)cAg>cCg	p.Q1042P	SMG6_ENST00000354901.4_Missense_Mutation_p.Q165P|SMG6_ENST00000263073.5_Missense_Mutation_p.Q1073P|SMG6_ENST00000536871.2_Missense_Mutation_p.Q165P			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1073					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACCTCAGACTGATTCACTGC	0.502000													27	36					0	0	0.779181	0	0
DYSF	8291	broad.mit.edu	37	2	71796972	71796972	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:71796972G>T	ENST00000258104.3	+	27	3110	c.2833G>T	c.(2833-2835)Ggt>Tgt	p.G945C	DYSF_ENST00000409651.1_Missense_Mutation_p.G977C|DYSF_ENST00000410041.1_Missense_Mutation_p.G963C|DYSF_ENST00000410020.3_Missense_Mutation_p.G963C|DYSF_ENST00000409762.1_Missense_Mutation_p.G962C|DYSF_ENST00000409366.1_Missense_Mutation_p.G946C|DYSF_ENST00000394120.2_Missense_Mutation_p.G946C|DYSF_ENST00000413539.2_Missense_Mutation_p.G976C|DYSF_ENST00000409744.1_Missense_Mutation_p.G932C|DYSF_ENST00000429174.2_Missense_Mutation_p.G945C|DYSF_ENST00000409582.3_Missense_Mutation_p.G962C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	945						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATGGACGCCGGTCACCTGAG	0.582000													15	44					4.96729e-08	5.99994e-08	0.575678	1	0
EPHB1	2047	broad.mit.edu	37	3	134898764	134898764	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:134898764C>T	ENST00000398015.3	+	10	2192	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	EPHB1_ENST00000493838.1_Missense_Mutation_p.R169W	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	608						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R608R(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CGAAGCTGTCCGGGAGTTTGC	0.483000													62	88					0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170177373	170177373	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:170177373C>A	ENST00000263816.3	-	2	386	c.101G>T	c.(100-102)cGc>cTc	p.R34L	LRP2_ENST00000443831.1_Missense_Mutation_p.R34L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	34	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTTCCACAGCGAAAATGCGC	0.418000													35	132					1.6237e-14	2.38023e-14	0.864702	1	0
ARID2	196528	broad.mit.edu	37	12	46244897	46244897	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:46244897G>T	ENST00000334344.6	+	15	3163	c.2991G>T	c.(2989-2991)caG>caT	p.Q997H	ARID2_ENST00000422737.1_Missense_Mutation_p.Q848H|ARID2_ENST00000444670.1_Missense_Mutation_p.Q607H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	997	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTCAATCACAGGGACCACCTC	0.493000			"""N, S, F"""		hepatocellular carcinoma								32	54					6.97489e-18	1.09724e-17	0.804634	1	0
FAT3	120114	broad.mit.edu	37	11	92533609	92533609	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:92533609C>G	ENST00000298047.6	+	9	7447	c.7430C>G	c.(7429-7431)aCc>aGc	p.T2477S	FAT3_ENST00000525166.1_Missense_Mutation_p.T2327S|FAT3_ENST00000409404.2_Missense_Mutation_p.T2477S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2477	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGTTGTTCACCAGCACTGCA	0.502000										TCGA Ovarian(4;0.039)			28	82					0	0	0.729181	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33662059	33662059	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:33662059G>T	ENST00000504830.1	-	6	1337	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L	ADAMTS12_ENST00000352040.3_Silent_p.L334L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	334	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAACAGGATTGAGGTCACTCT	0.493000										HNSCC(64;0.19)			34	88					1.8453e-21	3.09233e-21	0.853193	1	0
CNDP1	84735	broad.mit.edu	37	18	72247452	72247452	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:72247452G>T	ENST00000582365.1	+	9	1191	c.1125G>T	c.(1123-1125)tgG>tgT	p.W375C	CNDP1_ENST00000358821.3_Missense_Mutation_p.W418C			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	418					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TACACCCGTGGATTGCAAATA	0.448000													14	50					3.41278e-10	4.40288e-10	0.520397	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318672	21318672	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:21318672G>T	ENST00000583088.1	+	3	913	c.18G>T	c.(16-18)cgG>cgT	p.R6R	KCNJ12_ENST00000331718.5_Silent_p.R6R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGGCCAGCCGGGCCAACCCCT	0.697000										Prostate(3;0.18)			8	65					3.07112e-06	3.48732e-06	0.387290	1	0
HYDIN	54768	broad.mit.edu	37	16	71015294	71015294	+	Splice_Site	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:71015294C>A	ENST00000393567.2	-	29	4660	c.4510_splice	c.e29+1	p.A1504_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1504										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGTACTACCTGTGAGGTTC	0.468000													13	40					2.31682e-05	2.56494e-05	0.479597	1	0
SORCS1	114815	broad.mit.edu	37	10	108339200	108339200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:108339200C>A	ENST00000263054.6	-	25	3305	c.3298G>T	c.(3298-3300)Gga>Tga	p.G1100*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.G1100*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.G635*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1100						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGGCAGATCCACTGTGGGTT	0.547000													21	80					6.36457e-07	7.39591e-07	0.667858	1	0
RGAG1	57529	broad.mit.edu	37	X	109695255	109695255	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:109695255C>T	ENST00000465301.2	+	3	1656	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	RGAG1_ENST00000540313.1_Silent_p.A470A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	470										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TAACAATGGCCAAAACTTCTG	0.512000													42	47					0	0	0.870114	0	0
DHRSX	207063	broad.mit.edu	37	X	2184984	2184984	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:2184984C>A	ENST00000334651.5	-	5	445	c.393G>T	c.(391-393)ggG>ggT	p.G131G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	131							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		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)				CCATCATCACCCCAGCTGGAC	0.493000													33	125					4.32679e-17	6.70063e-17	0.827153	1	0
CD109	135228	broad.mit.edu	37	6	74468735	74468735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:74468735G>T	ENST00000437994.2	+	7	1173	c.742G>T	c.(742-744)Ggt>Tgt	p.G248C	CD109_ENST00000422508.2_Missense_Mutation_p.G171C|CD109_ENST00000287097.5_Missense_Mutation_p.G248C	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	248						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATTTAAATGGTACCATCAC	0.303000													6	25					1.12685e-05	1.26334e-05	0.307466	1	0
KLHL7	55975	broad.mit.edu	37	7	23205404	23205404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:23205404G>T	ENST00000322231.7	+	9	1448	c.958G>T	c.(958-960)Gga>Tga	p.G320*	KLHL7_ENST00000545443.1_Nonsense_Mutation_p.G320*|KLHL7_ENST00000539124.1_Nonsense_Mutation_p.G266*|KLHL7_ENST00000339077.4_Nonsense_Mutation_p.G342*|KLHL7_ENST00000409689.1_Nonsense_Mutation_p.G294*|KLHL7_ENST00000542558.1_Nonsense_Mutation_p.G117*			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	342						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACATTTTGGGAGGCTCTCA	0.463000													12	38					1.05317e-09	1.33279e-09	0.457914	1	0
HDHD1	8226	broad.mit.edu	37	X	7023812	7023812	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:7023812C>A	ENST00000381077.5	-	2	205	c.129G>T	c.(127-129)tgG>tgT	p.W43C	HDHD1_ENST00000412827.2_Missense_Mutation_p.W43C|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.W66C|HDHD1_ENST00000540122.1_Missense_Mutation_p.W43C	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	43					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						ACTTTACATCCCAGCTGTATT	0.428000													5	2					0.00116845	0.00122702	0.217242	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85497801	85497801	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:85497801C>A	ENST00000393217.2	+	14	3290	c.3229C>A	c.(3229-3231)Ctt>Att	p.L1077I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1077										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATCGTACCACTTTTTCATTT	0.269000													6	18					5.4927e-09	6.85297e-09	0.307466	1	0
AQP7	364	broad.mit.edu	37	9	33387027	33387027	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:33387027C>G	ENST00000539936.1	-	4	446	c.208G>C	c.(208-210)Gtc>Ctc	p.V70L	AQP7_ENST00000537089.1_Intron|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.V13L			O14520	AQP7_HUMAN	aquaporin 7	70					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCCAAGTTGACACCAAGGTAG	0.587000													11	144					0	0	0.479597	0	0
NAV3	89795	broad.mit.edu	37	12	78511997	78511997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:78511997G>T	ENST00000397909.2	+	14	3133	c.2960G>T	c.(2959-2961)gGt>gTt	p.G987V	NAV3_ENST00000228327.6_Missense_Mutation_p.G987V|NAV3_ENST00000266692.7_Missense_Mutation_p.G987V|NAV3_ENST00000536525.2_Missense_Mutation_p.G987V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	987						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACAGACAGGTTCCTGGAGA	0.562000										HNSCC(70;0.22)			15	38					1.37285e-15	2.04643e-15	0.500413	1	0
OR52E8	390079	broad.mit.edu	37	11	5878827	5878827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:5878827G>T	ENST00000537935.1	-	1	137	c.106C>A	c.(106-108)Cct>Act	p.P36T	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAAAAAGGGACTCCAATC	0.458000													24	34					8.58068e-18	1.34718e-17	0.717897	1	0
PURG	29942	broad.mit.edu	37	8	30889713	30889713	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:30889713G>A	ENST00000475541.1	-	1	1518	c.586C>T	c.(586-588)Cta>Tta	p.L196L	PURG_ENST00000339382.2_Silent_p.L196L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	196						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTAATCCGTAGGAAGCGACCC	0.473000													24	43					0	0	0.729181	0	0
CSMD3	114788	broad.mit.edu	37	8	113349921	113349921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:113349921C>A	ENST00000297405.5	-	43	6936	c.6692G>T	c.(6691-6693)cGa>cTa	p.R2231L	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2191L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2161L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2127L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12.					integral to membrane|plasma membrane		p.R2231Q(2)|p.R2191Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACCATTTCGAAACGGGCG	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	149					1.58986e-06	1.83145e-06	0.361761	1	0
EPHA7	2045	broad.mit.edu	37	6	94068033	94068033	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:94068033C>T	ENST00000369303.4	-	4	1113	c.929G>A	c.(928-930)tGt>tAt	p.C310Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	310	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCACATTCACATCTGGAGGA	0.468000													22	37					0	0	0.693898	0	0
CPEB2	132864	broad.mit.edu	37	4	15067959	15067959	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:15067959G>C	ENST00000538197.1	+	12	3060	c.3060G>C	c.(3058-3060)aaG>aaC	p.K1020N	CPEB2_ENST00000382395.3_Missense_Mutation_p.K553N|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000507071.1_Missense_Mutation_p.K575N|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.K545N|CPEB2_ENST00000382401.3_Missense_Mutation_p.K548N|CPEB2_ENST00000259997.5_Missense_Mutation_p.K583N|CPEB2_ENST00000442003.2_Missense_Mutation_p.K993N|CPEB2_ENST00000541112.1_Missense_Mutation_p.K1012N	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	575					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CATTGGTAAAGGAAGGTGCTG	0.463000													8	10					0	0	0.278610	0	0
OR14C36	127066	broad.mit.edu	37	1	248512651	248512651	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:248512651G>T	ENST00000317861.1	+	1	575	c.575G>T	c.(574-576)aGc>aTc	p.S192I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GACACCTTCAGCAATGAGGTC	0.502000													36	57					1.32136e-16	2.01494e-16	0.840704	1	0
TACC3	10460	broad.mit.edu	37	4	1739011	1739011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:1739011G>T	ENST00000313288.4	+	9	1898	c.1792G>T	c.(1792-1794)Gcc>Tcc	p.A598S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	598						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCCGCGGGAAGCCAAGCTTGT	0.552000													23	57					2.61193e-14	3.80787e-14	0.740014	1	0
SH2D2A	9047	broad.mit.edu	37	1	156784910	156784910	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:156784910G>A	ENST00000392306.2	-	3	366	c.227C>T	c.(226-228)gCt>gTt	p.A76V	SH2D2A_ENST00000368199.3_Missense_Mutation_p.A76V|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A58V|SH2D2A_ENST00000495306.1_5'UTR	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	76					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGAACCAAGCCCGGGTCTC	0.652000													11	26					0	0	0.387290	0	0
SETBP1	26040	broad.mit.edu	37	18	42531486	42531486	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:42531486G>T	ENST00000282030.5	+	4	2477	c.2181G>T	c.(2179-2181)cgG>cgT	p.R727R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	727						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAAGAAGCGGGGCAGGAAGC	0.582000									Schinzel-Giedion syndrome				8	43					5.4927e-09	6.85297e-09	0.307466	1	0
S1PR3	1903	broad.mit.edu	37	9	91616190	91616190	+	Silent	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:91616190G>A	ENST00000375846.3	+	1	4770	c.75G>A	c.(73-75)gtG>gtA	p.V25V	S1PR3_ENST00000358157.2_Silent_p.V25V			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	25					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACCAGTACGTGGGGAAGTTGG	0.617000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	114					0	0	0.335167	0	0
PRKG1	5592	broad.mit.edu	37	10	54050034	54050034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:54050034C>A	ENST00000373980.4	+	17	2363	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.P622H|PRKG1_ENST00000373975.2_Missense_Mutation_p.P352H|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.P634H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	634	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACCTTGACACCTCCTATAATA	0.338000													23	65					1.30897e-18	2.10919e-18	0.740014	1	0
OR8D2	283160	broad.mit.edu	37	11	124189659	124189659	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:124189659C>A	ENST00000357438.2	-	1	525	c.435G>T	c.(433-435)atG>atT	p.M145I		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATACCACAGCCATCATTATGG	0.458000													24	85					4.22769e-11	5.63693e-11	0.706142	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133692535	133692535	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:133692535C>T	ENST00000310926.4	-	3	642	c.369G>A	c.(367-369)gaG>gaA	p.E123E	SLCO2A1_ENST00000493729.1_Silent_p.E123E|SLCO2A1_ENST00000478651.1_5'UTR	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	123					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACTGGTAGGGCTCGGAGAGGA	0.577000													20	30					0	0	0.717897	0	0
AADACL3	126767	broad.mit.edu	37	1	12785378	12785378	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:12785378C>A	ENST00000332530.3	+	3	484	c.258C>A	c.(256-258)ccC>ccA	p.P86P	AADACL3_ENST00000359318.5_Silent_p.P156P	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	156							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGATCTGCCCCGGATCCGGG	0.547000													29	95					1.99505e-19	3.24094e-19	0.760397	1	0
RAB8B	51762	broad.mit.edu	37	15	63547708	63547708	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:63547708C>T	ENST00000321437.4	+	4	405	c.249C>T	c.(247-249)ggC>ggT	p.G83G	RAB8B_ENST00000448330.2_Silent_p.G83G	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						CCTTATAGGGCATTATGCTGG	0.313000													8	22					0	0	0.278610	0	0
CNTRL	11064	broad.mit.edu	37	9	123898153	123898153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:123898153G>T	ENST00000373855.1	+	15	2355	c.2095G>T	c.(2095-2097)Gga>Tga	p.G699*	CNTRL_ENST00000238341.5_Nonsense_Mutation_p.G699*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.G147*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.G147*			Q7Z7A1	CNTRL_HUMAN	centriolin	699					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAGACCCAGGGAGATCTCAG	0.483000													15	51					3.41278e-10	4.40288e-10	0.520397	1	0
ENTPD1	953	broad.mit.edu	37	10	97583068	97583068	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:97583068G>C	ENST00000371207.3	+	2	190	c.127G>C	c.(127-129)Gct>Cct	p.A43P	ENTPD1_ENST00000543964.1_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.A31P|ENTPD1_ENST00000453258.2_Missense_Mutation_p.A38P|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000490659.1_3'UTR	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	31					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGCTGTGATAGCTTTGCTTGC	0.398000													18	76					0	0	0.557998	0	0
KANK4	163782	broad.mit.edu	37	1	62728915	62728915	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:62728915G>T	ENST00000371153.4	-	7	2766	c.2388C>A	c.(2386-2388)gcC>gcA	p.A796A	KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Silent_p.A168A|KANK4_ENST00000371150.1_Silent_p.A152A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	796										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGGCCACCACGGCGGGGCTAG	0.567000													9	25					3.41278e-10	4.40288e-10	0.520397	1	0
CIAO1	9391	broad.mit.edu	37	2	96933114	96933114	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:96933114G>T	ENST00000488633.1	+	2	414	c.195G>T	c.(193-195)cgG>cgT	p.R65R	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	65					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						GCACCGTGCGGAAGGTAGCCT	0.582000													37	151					5.48756e-27	9.86027e-27	0.859065	1	0
PREX1	57580	broad.mit.edu	37	20	47342863	47342863	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:47342863C>A	ENST00000396220.1	-	5	607	c.585G>T	c.(583-585)ccG>ccT	p.P195P	PREX1_ENST00000371941.3_Silent_p.P195P			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	195	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCCTCTGGATCGGAGACAACA	0.498000													11	39					7.03913e-09	8.72764e-09	0.411799	1	0
BAGE2	85319	broad.mit.edu	37	21	11039291	11039291	+	RNA	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:11039291G>A	ENST00000470054.1	-	0	912									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATCTGGTGTGTAACGACTTC	0.378000													22	310					0	0	0.706142	0	0
SEC24B	10427	broad.mit.edu	37	4	110394206	110394206	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:110394206C>T	ENST00000265175.5	+	3	979	c.924C>T	c.(922-924)ccC>ccT	p.P308P	SEC24B_ENST00000504968.2_Silent_p.P339P|SEC24B_ENST00000399100.2_Silent_p.P308P	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	308					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCAGCCTCCCAAGTCCAGCC	0.413000													24	111					0	0	0.681144	0	0
POTEC	388468	broad.mit.edu	37	18	14542966	14542966	+	Silent	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:14542966C>T	ENST00000358970.5	-	1	179	c.180G>A	c.(178-180)aaG>aaA	p.K60K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	60										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACTTGCCCATCTTGCTCCTGA	0.582000													19	330					0	0	0.760397	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44364921	44364921	+	Silent	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:44364921T>C	ENST00000262915.3	+	9	927	c.750T>C	c.(748-750)taT>taC	p.Y250Y	ST3GAL3_ENST00000372372.2_Silent_p.Y219Y|ST3GAL3_ENST00000372374.2_Silent_p.Y150Y|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361400.4_Silent_p.Y165Y|ST3GAL3_ENST00000372369.1_Silent_p.Y181Y|ST3GAL3_ENST00000533933.1_Silent_p.Y181Y|ST3GAL3_ENST00000361392.4_Silent_p.Y181Y|ST3GAL3_ENST00000528371.1_Silent_p.Y165Y|ST3GAL3_ENST00000351035.3_Silent_p.Y219Y|ST3GAL3_ENST00000531993.1_Silent_p.Y165Y|ST3GAL3_ENST00000353126.3_Silent_p.Y181Y|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Silent_p.Y165Y|ST3GAL3_ENST00000332628.6_Silent_p.Y150Y|ST3GAL3_ENST00000361746.4_Silent_p.Y250Y|ST3GAL3_ENST00000347631.2_Silent_p.Y196Y|ST3GAL3_ENST00000372375.2_Silent_p.Y235Y|ST3GAL3_ENST00000372368.2_Silent_p.Y235Y|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372367.1_Silent_p.Y180Y|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372365.1_Silent_p.Y181Y|ST3GAL3_ENST00000372366.1_Silent_p.Y180Y|ST3GAL3_ENST00000330208.2_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	181					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TTGACGACTATGACATTGTGG	0.587000													22	98					0	0	0.717897	0	0
ADRBK1	156	broad.mit.edu	37	11	67052855	67052855	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:67052855G>T	ENST00000308595.5	+	21	2294	c.2004G>T	c.(2002-2004)ccG>ccT	p.P668P	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	668					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGAACAAGCCGCGCTCGCCCG	0.642000													5	19					2.0095e-06	2.30817e-06	0.248553	1	0
PPARD	5467	broad.mit.edu	37	6	35389655	35389655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:35389655G>T	ENST00000311565.4	+	6	693	c.344G>T	c.(343-345)tGc>tTc	p.C115F	PPARD_ENST00000448077.2_Missense_Mutation_p.C76F|PPARD_ENST00000444397.1_Missense_Mutation_p.C115F|PPARD_ENST00000540939.1_Missense_Mutation_p.C12F|PPARD_ENST00000337400.2_Missense_Mutation_p.C115F|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000360694.3_Missense_Mutation_p.C115F	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	115					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GAGCGCAGCTGCAAGATTCAG	0.562000													33	31					5.8336e-16	8.82804e-16	0.779181	1	0
NXPE4	54827	broad.mit.edu	37	11	114453180	114453180	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:114453180G>T	ENST00000375478.3	-	3	840	c.660C>A	c.(658-660)ggC>ggA	p.G220G	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTAGGATCAGGCCACATTCAG	0.517000													29	103					2.80507e-11	3.74637e-11	0.760397	1	0
GYPB	2994	broad.mit.edu	37	4	144918727	144918727	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:144918727A>T	ENST00000283126.7	-	4	291	c.236T>A	c.(235-237)cTc>cAc	p.L79H	GYPB_ENST00000502664.1_Missense_Mutation_p.L79H|GYPB_ENST00000429670.2_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Missense_Mutation_p.L46H					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGAAATTAAGAGGATCGTTCC	0.353000													21	67					0	0	0.717897	0	0
OR14K1	343170	broad.mit.edu	37	1	247902544	247902544	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:247902544G>T	ENST00000283225.2	+	1	628	c.628G>T	c.(628-630)Gtt>Ttt	p.V210F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTCATGTTTAGTTTGCATTGT	0.428000													17	62					9.16793e-09	1.12618e-08	0.520397	1	0
ZNF679	168417	broad.mit.edu	37	7	63721292	63721292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:63721292G>T	ENST00000421025.1	+	4	516	c.247G>T	c.(247-249)Gta>Tta	p.V83L	ZNF679_ENST00000255746.4_Missense_Mutation_p.V83L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	83	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						AAATGAGATGGTAACCAAACA	0.413000													5	26					3.59834e-05	3.95618e-05	0.217242	1	0
SCN7A	6332	broad.mit.edu	37	2	167262819	167262819	+	Silent	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:167262819A>G	ENST00000409855.1	-	25	4446	c.4320T>C	c.(4318-4320)ctT>ctC	p.L1440L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1440					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAATTGCATCAAGCATCCCAT	0.398000													52	148					0	0	0.870114	0	0
NXF1	10482	broad.mit.edu	37	11	62571367	62571367	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:62571367G>T	ENST00000531709.2	-	2	225	c.112C>A	c.(112-114)Cgt>Agt	p.R38S	NXF1_ENST00000439713.2_Missense_Mutation_p.R38S|NXF1_ENST00000294172.2_Missense_Mutation_p.R38S|NXF1_ENST00000532297.1_Missense_Mutation_p.R38S|NXF1_ENST00000531131.1_Intron	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	38	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGACCTACGGTTTCCTTCA	0.512000													56	122					1.85135e-42	3.62974e-42	0.870114	1	0
RYR3	6263	broad.mit.edu	37	15	34151870	34151870	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:34151870G>C	ENST00000389232.4	+	100	14307	c.14237G>C	c.(14236-14238)cGc>cCc	p.R4746P	RYR3_ENST00000415757.3_Missense_Mutation_p.R4741P|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4746					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATGTATCGCATTGTCTTT	0.423000													5	17					0	0	0.217242	0	0
XIRP2	129446	broad.mit.edu	37	2	168105301	168105301	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:168105301A>G	ENST00000409195.1	+	9	7488	c.7399A>G	c.(7399-7401)Atg>Gtg	p.M2467V	XIRP2_ENST00000409273.1_Missense_Mutation_p.M2245V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2467V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2292					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAAAGTAATGGTGATGAC	0.368000													14	54					0	0	0.520397	0	0
HRH2	3274	broad.mit.edu	37	5	175110375	175110375	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:175110375C>G	ENST00000231683.2	+	1	1912	c.139C>G	c.(139-141)Cgc>Ggc	p.R47G	HRH2_ENST00000377291.2_Missense_Mutation_p.R47G	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	47					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGGCTTGAACCGCCGGCTCCG	0.587000													71	117					0	0	0.870114	0	0
DST	667	broad.mit.edu	37	6	56473243	56473243	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:56473243C>A	ENST00000370754.5	-	39	6083	c.6084G>T	c.(6082-6084)ctG>ctT	p.L2028L	DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L1524L|DST_ENST00000370769.4_Silent_p.L1850L|DST_ENST00000312431.6_Silent_p.L1850L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.L1850L|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1850					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCCAGGACCAGAAGAGCAC	0.448000													32	30					2.48696e-23	4.27563e-23	0.779181	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14791470	14791470	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:14791470C>T	ENST00000358984.4	+	16	1985	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T602I|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	602										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATTCGATACCTTAAGTGGA	0.303000													16	34					0	0	0.557998	0	0
KIAA1715	80856	broad.mit.edu	37	2	176812231	176812231	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:176812231G>A	ENST00000272748.4	-	9	930	c.683C>T	c.(682-684)cCt>cTt	p.P228L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P228L|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P153L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	228	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGAAGTAGCAGGGGATCCAAG	0.458000													24	79					0	0	0.750413	0	0
ZNF142	7701	broad.mit.edu	37	2	219509387	219509387	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:219509387T>G	ENST00000411696.2	-	7	2631	c.1852A>C	c.(1852-1854)Atg>Ctg	p.M618L	ZNF142_ENST00000449707.1_Missense_Mutation_p.M618L			P52746	ZN142_HUMAN	zinc finger protein 142	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGCCCTGCATGGCCCCTTCT	0.617000													9	44					0	0	0.335167	0	0
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000													4	132					0	0	0.248553	0	0
KIF21A	55605	broad.mit.edu	37	12	39701509	39701509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:39701509C>A	ENST00000395670.3	-	33	4722	c.4303G>T	c.(4303-4305)Gga>Tga	p.G1435*	KIF21A_ENST00000361418.5_Nonsense_Mutation_p.G1434*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.G1397*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.G1421*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.G1381*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1434					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAAGCATCTCCAAGAGTAACT	0.428000													11	23					0.00010058	0.000109225	0.411799	1	0
THRAP3	9967	broad.mit.edu	37	1	36755042	36755042	+	Silent	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:36755042G>T	ENST00000354618.5	+	5	1646	c.1422G>T	c.(1420-1422)ctG>ctT	p.L474L	THRAP3_ENST00000469141.2_Silent_p.L474L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	474					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGAGGGCCTGGTATATGCAC	0.463000			T	USP6	aneurysmal bone cysts								21	60					5.26018e-13	7.42394e-13	0.608945	1	0
CXXC1	30827	broad.mit.edu	37	18	47813158	47813158	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:47813158G>A	ENST00000285106.6	-	2	788	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CXXC1_ENST00000412036.2_Missense_Mutation_p.A25V|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Missense_Mutation_p.A25V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	25					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GTAGATGGGCGCATTCTCCCC	0.607000													5	203					0	0	0.248553	0	0
CDHR1	92211	broad.mit.edu	37	10	85955286	85955286	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:85955286G>C	ENST00000372117.3	+	2	195	c.92G>C	c.(91-93)gGg>gCg	p.G31A	CDHR1_ENST00000332904.3_Missense_Mutation_p.G31A	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	31					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTCGACAACGGGGTCGGCAGC	0.602000													9	52					0	0	0.411799	0	0
ENTPD1	953	broad.mit.edu	37	10	97583092	97583092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:97583092C>A	ENST00000371207.3	+	2	214	c.151C>A	c.(151-153)Cag>Aag	p.Q51K	ENTPD1_ENST00000543964.1_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Q39K|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q46K|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000490659.1_3'UTR	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	39					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGGTTGACCCAGAACAAAGC	0.453000													15	78					1.15088e-07	1.3714e-07	0.500413	1	0
CXorf21	80231	broad.mit.edu	37	X	30578217	30578217	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:30578217T>C	ENST00000378962.3	-	3	578	c.256A>G	c.(256-258)Aca>Gca	p.T86A		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	86								p.T86P(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTGGGGTTTGTCTGCAGCACT	0.453000													123	91					0	0	0.870114	0	0
ZNF70	7621	broad.mit.edu	37	22	24086502	24086502	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:24086502G>C	ENST00000341976.3	-	2	1286	c.826C>G	c.(826-828)Cta>Gta	p.L276V		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	276						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGTTTCTTTAGGGTGTGGATC	0.502000													12	33					0	0	0.411799	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744252	140744252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140744252G>T	ENST00000518069.1	+	1	355	c.355G>T	c.(355-357)Gta>Tta	p.V119L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTTATGGAGTAGAAGTAGA	0.443000													9	16					0.00621372	0.00644026	0.335167	1	0
TRANK1	9881	broad.mit.edu	37	3	36899394	36899394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:36899394C>A	ENST00000301807.6	-	12	1934	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	TRANK1_ENST00000429976.2_Missense_Mutation_p.V563L|TRANK1_ENST00000428977.2_Missense_Mutation_p.V13L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	563					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						AGCTTCTTCACGCGCTTTAGC	0.498000													44	56					5.73376e-24	9.98703e-24	0.870114	1	0
APBA1	320	broad.mit.edu	37	9	72131552	72131552	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:72131552C>G	ENST00000265381.4	-	2	797	c.575G>C	c.(574-576)gGc>gCc	p.G192A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	192					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTCCTGGAGGCCGCCGTAGTC	0.687000													6	7					0	0	0.278610	0	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000													4	117					0	0	0.184627	0	0
DBH	1621	broad.mit.edu	37	9	136509385	136509385	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:136509385G>T	ENST00000393056.2	+	5	979	c.967G>T	c.(967-969)Ggg>Tgg	p.G323W		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	323					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CGGGGGTCCAGGGTCCTCCAG	0.597000													21	46					1.66031e-10	2.17369e-10	0.667858	1	0
BHMT	635	broad.mit.edu	37	5	78421957	78421957	+	Silent	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:78421957C>G	ENST00000274353.5	+	6	821	c.714C>G	c.(712-714)gcC>gcG	p.A238A	BHMT_ENST00000524080.1_Silent_p.A85A|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	238	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGGAGGCTGCCCGACTGAAAG	0.507000													21	37					0	0	0.624587	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757961	99757961	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr7:99757961C>G	ENST00000360039.4	-	4	1443	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.E289Q|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.E351Q	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	351					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCGGTCCTCCGCAGTCAGT	0.592000													44	91					0	0	0.859065	0	0
MED30	90390	broad.mit.edu	37	8	118541020	118541020	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:118541020G>T	ENST00000297347.3	+	2	472	c.308G>T	c.(307-309)tGt>tTt	p.C103F	MED30_ENST00000522839.1_Missense_Mutation_p.C103F	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	103					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AATGAAAACTGTGGTGGGATG	0.393000													71	117					3.33908e-46	6.5953e-46	0.870114	1	0
INPP4B	8821	broad.mit.edu	37	4	143033801	143033801	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:143033801T>A	ENST00000513000.1	-	23	2603	c.2170A>T	c.(2170-2172)Aga>Tga	p.R724*	INPP4B_ENST00000509777.1_Nonsense_Mutation_p.R724*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.R724*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.R724*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.R724*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	724					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCAAACATTCTGGCTGGAAGC	0.368000													28	146					0	0	0.812448	0	0
HNF4A	3172	broad.mit.edu	37	20	42984469	42984469	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:42984469G>T	ENST00000457232.1	+	1	29	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W		NM_001030003.2|NM_175914.4	NP_001025174.1|NP_787110.2	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	157					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G9W(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCGCCCCTCGGGGCTCCAGT	0.682000													10	45					9.31168e-06	1.04691e-05	0.435327	1	0
SPON1	10418	broad.mit.edu	37	11	14287261	14287261	+	RNA	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:14287261C>A	ENST00000310358.7	+	0	2987				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		caggGCTGCACTCTAGATTCC	0.433000													5	22					0.248553	0.249493	0.248553	1	0
TPTE	7179	broad.mit.edu	37	21	10914388	10914388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr21:10914388G>T	ENST00000298232.7	-	20	1644	c.1277C>A	c.(1276-1278)tCc>tAc	p.S426Y	TPTE_ENST00000342420.5_Missense_Mutation_p.S406Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S444Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	444	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATAGTGGAAAAGACAAC	0.328000													8	41					1.58986e-06	1.83145e-06	0.361761	1	0
PDE3A	5139	broad.mit.edu	37	12	20766430	20766430	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr12:20766430C>A	ENST00000359062.3	+	3	1105	c.1065C>A	c.(1063-1065)ggC>ggA	p.G355G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGGCCCACGGCCTCATTACCG	0.542000													18	30					3.73194e-20	6.16048e-20	0.592651	1	0
MCM4	4173	broad.mit.edu	37	8	48883390	48883390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:48883390C>A	ENST00000262105.2	+	11	1963	c.1754C>A	c.(1753-1755)tCg>tAg	p.S585*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.S585*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	585	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGTACAAGATCGGTATTGCAT	0.483000													27	40					3.99451e-17	6.19811e-17	0.740014	1	0
GPC5	2262	broad.mit.edu	37	13	92345802	92345802	+	Silent	SNP	C	C	A	rs144029884		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr13:92345802C>A	ENST00000377067.3	+	3	1059	c.687C>A	c.(685-687)ctC>ctA	p.L229L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	229						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCAGGCACTCAATCTGGGCA	0.537000													15	27					1.02788e-11	1.39624e-11	0.520397	1	0
KIAA1614	57710	broad.mit.edu	37	1	180905607	180905607	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:180905607C>A	ENST00000367588.4	+	5	2617	c.2562C>A	c.(2560-2562)acC>acA	p.T854T	KIAA1614_ENST00000367587.1_Silent_p.T475T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	854										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTCTCAGGACCTGTGAGCTGC	0.647000													25	77					9.17885e-22	1.54469e-21	0.779181	1	0
AGBL1	123624	broad.mit.edu	37	15	86801250	86801250	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr15:86801250T>A	ENST00000441037.2	+	8	914	c.819T>A	c.(817-819)gaT>gaA	p.D273E	AGBL1_ENST00000421325.2_Missense_Mutation_p.D273E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	273	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATACTGAAGATGGGAAAGTGG	0.433000													35	136					0	0	0.870114	0	0
PRSS23	11098	broad.mit.edu	37	11	86518772	86518772	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:86518772A>T	ENST00000280258.5	+	2	512	c.87A>T	c.(85-87)aaA>aaT	p.K29N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.K29N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	29					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCCCTGGAAACCCACTTGGC	0.547000													39	97					0	0	0.870114	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615627	140615627	+	RNA	SNP	A	A	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:140615627A>T	ENST00000526308.1	+	0	1690					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCTGCCCCTCACCTCCCTGGT	0.662000													66	177					0	0	0.870114	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419754	5419754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:5419754C>T	ENST00000341928.2	-	12	1802	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G506R|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G506R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G488R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G506R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	488	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						Acttcttcccccttcctccgt	0.537000													11	57					0	0	0.361761	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449375	104449375	+	Silent	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:104449375C>A	ENST00000361820.3	-	2	1407	c.807G>T	c.(805-807)ctG>ctT	p.L269L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	269					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCCTGGCACAGCAACAAGC	0.433000													29	77					8.4185e-14	1.21397e-13	0.760397	1	0
KCNG4	93107	broad.mit.edu	37	16	84256100	84256100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:84256100C>A	ENST00000308251.4	-	3	1351	c.1283G>T	c.(1282-1284)aGt>aTt	p.S428I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	428						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCTGGCACACTGCGGGGCAC	0.632000													34	96					6.45866e-13	9.0832e-13	0.840704	1	0
FCRL5	83416	broad.mit.edu	37	1	157491080	157491081	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:157491080_157491081insA	ENST00000361835.3	-	11	2398_2399	c.2241_2242insT	c.(2239-2244)gtcggtfs	p.G748fs	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Frame_Shift_Ins_p.G748fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	748						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGAGACACCGGAACTGAAAGAG	0.495													12	40	---	---	---	---					
PCNXL2	80003	broad.mit.edu	37	1	233120129	233120130	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:233120129_233120130insC	ENST00000258229.8	-	34	6568_6569	c.6334_6335insG	c.(6334-6336)tgtfs	p.C2112fs	PCNXL2_ENST00000344698.2_3'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2112						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTGCAGACAACCCCGAGAGTG	0.658													29	82	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237777400	237777400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:237777400delC	ENST00000366574.2	+	37	5289	c.4972delC	c.(4972-4974)tcfs	p.L1658fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.L1656fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.L1642fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1658	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATCACACTCTCCGGCTCTA	0.498													17	67	---	---	---	---					
OR2L13	284521	broad.mit.edu	37	1	248263217	248263217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr1:248263217delC	ENST00000366478.2	+	3	877	c.540delC	c.(538-540)gtfs	p.V180fs	OR2L13_ENST00000358120.2_Frame_Shift_Del_p.V180fs	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTGCGATGTCCCAGCCATGT	0.458													68	227	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168106134	168106135	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr2:168106134_168106135insA	ENST00000409195.1	+	9	8321_8322	c.8232_8233insA	c.(8230-8235)acaaaafs	p.TK2744fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TK2744fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TK2522fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2569					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACCTTTACCAAAAAACAATA	0.347													10	36	---	---	---	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:42739670_42739672delGAA	ENST00000441594.1	-	6	916_918	c.655_657delTTC	c.(655-657)del	p.F219del	HHATL_ENST00000310417.5_In_Frame_Del_p.F219del	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													7	177	---	---	---	---					
ZBTB38	253461	broad.mit.edu	37	3	141064552	141064553	+	RNA	DEL	GT	GT	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr3:141064552_141064553delGT	ENST00000507698.1	-	0	166																											TGGTGCATGGGTGTGTGTGTGG	0.525													2	4	---	---	---	---					
LDB2	9079	broad.mit.edu	37	4	16900033	16900033	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:16900033delC	ENST00000502640.1	-	1	224	c.76delG	c.(76-78)tafs	p.V26fs	LDB2_ENST00000515064.1_Frame_Shift_Del_p.V26fs|LDB2_ENST00000441778.2_Frame_Shift_Del_p.V26fs|LDB2_ENST00000304523.5_Frame_Shift_Del_p.V26fs			O43679	LDB2_HUMAN	LIM domain binding 2	26							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TCTGGCTGTACCATGTATGGT	0.443													24	91	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83748655	83748655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr4:83748655delG	ENST00000432794.1	-	25	3360	c.3197delC	c.(3196-3198)cafs	p.P1066fs	SEC31A_ENST00000326950.5_Frame_Shift_Del_p.P1014fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.P802fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.P939fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.P900fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.P1033fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.P1053fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.P999fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.P900fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.P1038fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.P1053fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.P1053fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.P1084fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.P1014fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.P939fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1053	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATGTGGCTGTGGGAATGAAGA	0.517													73	210	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161128627	161128627	+	Frame_Shift_Del	DEL	C	C	-	rs34907804	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr5:161128627delC	ENST00000523217.1	+	9	1422	c.1180delC	c.(1180-1182)ccfs	p.P396fs	GABRA6_ENST00000274545.5_Frame_Shift_Del_p.P406fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	406					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACCTGTCACACCCCCACCACT	0.473										TCGA Ovarian(5;0.080)			23	54	---	---	---	---					
BTN1A1	696	broad.mit.edu	37	6	26509068	26509068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:26509068delC	ENST00000244513.6	+	7	1313	c.1247delC	c.(1246-1248)gafs	p.A416fs		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	416	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTCCCATTGGCAGGGCCCCCA	0.507													32	62	---	---	---	---					
CRISP3	10321	broad.mit.edu	37	6	49698955	49698956	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr6:49698955_49698956insA	ENST00000433368.2	-	7	668_669	c.599_600insT	c.(598-600)tgcfs	p.C200fs	CRISP3_ENST00000423399.2_Frame_Shift_Ins_p.C87fs|CRISP3_ENST00000263045.4_Frame_Shift_Ins_p.C190fs|CRISP3_ENST00000371159.4_Frame_Shift_Ins_p.C208fs|CRISP3_ENST00000393666.1_Frame_Shift_Ins_p.C177fs	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	177					innate immune response	proteinaceous extracellular matrix|specific granule		p.W177L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GTCTATTAGCCCAATTACCACT	0.342													24	79	---	---	---	---					
TMEM67	91147	broad.mit.edu	37	8	94828657	94828658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:94828657_94828658insT	ENST00000453321.3	+	28	3023_3024	c.2965_2966insT	c.(2965-2967)ggafs	p.G989fs	TMEM67_ENST00000409623.3_Frame_Shift_Ins_p.G908fs	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	989					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAAAACATTGGTGGATCAAAGA	0.282													13	106	---	---	---	---					
COL14A1	7373	broad.mit.edu	37	8	121275149	121275149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:121275149delG	ENST00000297848.3	+	24	3182	c.2912delG	c.(2911-2913)agfs	p.R971fs	COL14A1_ENST00000247781.3_Frame_Shift_Del_p.R876fs|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.R971fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	971	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGACAACCAGGCATTGCTTC	0.368													58	84	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133905990	133905990	+	Frame_Shift_Del	DEL	G	G	-	rs146452691	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr8:133905990delG	ENST00000220616.4	+	11	2857	c.2817delG	c.(2815-2817)acfs	p.T939fs	TG_ENST00000377869.1_Frame_Shift_Del_p.T939fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	939	Thyroglobulin type-1 8.				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)		TTAGGGAAACGGAAGAGATTG	0.527													88	115	---	---	---	---					
GNAQ	2776	broad.mit.edu	37	9	80343570	80343571	+	Frame_Shift_Ins	INS	-	-	CCTC			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr9:80343570_80343571insCCTC	ENST00000286548.4	-	6	970_971	c.748_749insGAGG	c.(748-750)aagfs	p.K250fs	GNAQ_ENST00000397476.3_Frame_Shift_Ins_p.K48fs	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	250					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AGCCTTGCTTTCCTCCATTCGG	0.337			Mis		uveal melanoma								20	92	---	---	---	---					
MYO3A	53904	broad.mit.edu	37	10	26414399	26414400	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr10:26414399_26414400delGA	ENST00000265944.5	+	19	2142_2143	c.1976_1977delGA	c.(1975-1977)gfs	p.G659fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	659	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCACTAGAGGAGAAACAATTA	0.421													31	94	---	---	---	---					
NAT10	55226	broad.mit.edu	37	11	34162089	34162089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:34162089delG	ENST00000257829.3	+	24	2768	c.2562delG	c.(2560-2562)ctfs	p.L854fs	NAT10_ENST00000531159.2_Frame_Shift_Del_p.L782fs|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	854	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGAACCAGCTGGGGGACCTGG	0.542													14	66	---	---	---	---					
MS4A1	931	broad.mit.edu	37	11	60233571	60233571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:60233571delC	ENST00000534668.1	+	5	803	c.514delC	c.(514-516)ccfs	p.P172fs	MS4A1_ENST00000345732.4_Frame_Shift_Del_p.P172fs|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Frame_Shift_Del_p.P172fs|MS4A1_ENST00000389939.2_Frame_Shift_Del_p.P172fs	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	172	Epitope 3 (recognized by antibodies, including Rituximab).				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ACCAGCTAATCCCTCTGAGAA	0.348													51	166	---	---	---	---					
FAT3	120114	broad.mit.edu	37	11	92532563	92532563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:92532563delC	ENST00000298047.6	+	9	6401	c.6384delC	c.(6382-6384)ggfs	p.G2128fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.G2128fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.G1978fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2128	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGACTATGGCCACTTTGAAA	0.438										TCGA Ovarian(4;0.039)			10	20	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118969143	118969143	+	Frame_Shift_Del	DEL	A	A	-	rs35482889		TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr11:118969143delA	ENST00000409993.2	-	7	2249	c.698delT	c.(697-699)tcfs	p.F233fs	DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.F126fs|DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.F233fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	233					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CAAAGTGGTGAAAAAAAAGGG	0.438													9	226	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94088551	94088551	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:94088551delG	ENST00000553484.1	+	31	5192	c.5038delG	c.(5038-5040)gcfs	p.G1680fs	UNC79_ENST00000256339.4_Frame_Shift_Del_p.G1481fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.G1658fs|UNC79_ENST00000393151.2_Frame_Shift_Del_p.G1658fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1658						integral to membrane		p.G1481C(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGCGATGACGGCCCCTCCGG	0.562													25	70	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106208985	106208985	+	RNA	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr14:106208985delC	ENST00000390548.2	-	0	295																											GCAGAGGCCTCCGGGTGAAGA	0.677													5	2	---	---	---	---					
PRR14	78994	broad.mit.edu	37	16	30664360	30664360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr16:30664360delG	ENST00000542965.2	+	4	896	c.440delG	c.(439-441)cgfs	p.R147fs	PRR14_ENST00000300835.4_Frame_Shift_Del_p.R147fs			Q9BWN1	PRR14_HUMAN	proline rich 14	147	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AAGGTGGACCGGGCCCCCCAG	0.647													22	75	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37627734	37627735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr17:37627734_37627735insT	ENST00000447079.4	+	2	1682_1683	c.1649_1650insT	c.(1648-1650)cttfs	p.L550fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L550fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	550					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.P550H(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAGACACCCCCTTTGCCACCTT	0.535			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			212	556	---	---	---	---					
CDH2	1000	broad.mit.edu	37	18	25543335	25543335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:25543335delC	ENST00000269141.3	-	15	2923	c.2500delG	c.(2500-2502)acfs	p.D834fs	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Frame_Shift_Del_p.D803fs	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	834					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTAATGAAGTCCCCAATGTCT	0.483													18	40	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246287	56246287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr18:56246287delG	ENST00000361673.3	-	4	1934	c.1721delC	c.(1720-1722)cafs	p.P574fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	574							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGGGTTAGTGGGGGCTCAGC	0.498											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	81	---	---	---	---					
NLRP9	338321	broad.mit.edu	37	19	56241296	56241296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:56241296delA	ENST00000332836.2	-	3	1922	c.1895delT	c.(1894-1896)tcfs	p.F632fs		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	632						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAAAATCTGGAAGTTCTTGTT	0.443													37	42	---	---	---	---					
ZSCAN4	201516	broad.mit.edu	37	19	58189781	58189781	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr19:58189781delG	ENST00000318203.5	+	5	1507	c.810delG	c.(808-810)atfs	p.M270fs		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	270					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTATGGTGATGGGAGCAGGGT	0.493													46	95	---	---	---	---					
LRRN4	164312	broad.mit.edu	37	20	6033428	6033429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:6033428_6033429insG	ENST00000378858.4	-	2	241_242	c.17_18insC	c.(16-18)cctfs	p.P6fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	6						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCAGCAGCAGCGGTAGGGTTTG	0.658													6	9	---	---	---	---					
SCP2D1	140856	broad.mit.edu	37	20	18794652	18794652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:18794652delA	ENST00000377428.2	+	1	283	c.193delA	c.(193-195)aafs	p.K65fs	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ATTGGTCAAGAAAGTCAATGC	0.483													41	94	---	---	---	---					
COL20A1	57642	broad.mit.edu	37	20	61942891	61942907	+	Splice_Site	DEL	GGTGAGCTGGGCCGGGG	GGTGAGCTGGGCCGGGG	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr20:61942891_61942907delGGTGAGCTGGGCCGGGG	ENST00000422202.1	+	11	1628	c.1560_splice	c.e11+1	p.520_splice	COL20A1_ENST00000435874.1_Splice_Site_p.520_splice|COL20A1_ENST00000358894.6_Splice_Site_p.513_splice|COL20A1_ENST00000326996.6_Splice_Site_p.513_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	513	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGGAGCGAGAGGTGAGCTGGGCCGGGGGGTGGCGGGG	0.705													8	30	---	---	---	---					
CCDC116	164592	broad.mit.edu	37	22	21989105	21989124	+	Frame_Shift_Del	DEL	CGTGCCTGAAGCATCAGAGC	CGTGCCTGAAGCATCAGAGC	-	rs75710587	byFrequency	TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chr22:21989105_21989124delCGTGCCTGAAGCATCAGAGC	ENST00000292779.3	+	4	914_933	c.753_772delCGTGCCTGAAGCATCAGAGC	c.(751-774)ggcgfs	p.GVPEASEP251fs		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	251										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAAGCTCTGGCGTGCCTGAAGCATCAGAGCCGAGGCCTGG	0.582													18	62	---	---	---	---					
NR0B1	190	broad.mit.edu	37	X	30326779	30326779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:30326779delG	ENST00000378970.4	-	1	936	c.702delC	c.(700-702)ccfs	p.P234fs	NR0B1_ENST00000453287.1_Frame_Shift_Del_p.P234fs	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	234	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGTCCCACCAGGGGGCCCTCG	0.687											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	3	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130411036	130411036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:130411036delC	ENST00000370904.1	-	20	3368	c.2458delG	c.(2458-2460)ccfs	p.A820fs	IGSF1_ENST00000370910.1_Frame_Shift_Del_p.A820fs|IGSF1_ENST00000370903.3_Frame_Shift_Del_p.A834fs|IGSF1_ENST00000361420.3_Frame_Shift_Del_p.A829fs|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	829	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCTGCACTGGCCCCCGGACTT	0.488													7	600	---	---	---	---					
CD40LG	959	broad.mit.edu	37	X	135741324	135741324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8120-01A-11D-2238-08	TCGA-44-8120-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a2200c0-8af6-4caf-9432-97132f35b5b2	f1b93f7b-e551-4d93-b38d-fc7bb55ee6d7	g.chrX:135741324delC	ENST00000370629.2	+	5	592	c.536delC	c.(535-537)tcfs	p.S179fs	CD40LG_ENST00000370628.2_Frame_Shift_Del_p.S158fs	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	179					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACCTTCTGTTCCAATCGGGAA	0.463									Immune Deficiency with Hyper-IgM				122	137	---	---	---	---